id
stringlengths 1
4
| tokens
sequence | ner_tags
sequence |
---|---|---|
2100 | [
"The",
"human",
"T",
"-",
"cell",
"leukemia",
"virus",
"type",
"1",
"(",
"HTLV-1",
")",
"and",
"type",
"2",
"(",
"HTLV-2",
")",
"are",
"two",
"pathogenic",
"retroviruses",
"."
] | [
0,
1,
2,
2,
2,
2,
2,
2,
2,
0,
3,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0
] |
2101 | [
"Although",
"both",
"viruses",
"share",
"a",
"common",
"genome",
"organization",
"and",
"amino",
"acid",
"homology",
"in",
"common",
"viral",
"proteins",
",",
"the",
"incidence",
"of",
"disease",
"with",
"infection",
"is",
"distinct",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
5,
0,
0,
0,
0,
0,
0,
0
] |
2102 | [
"Infection",
"with",
"HTLV-1",
"may",
"result",
"in",
"the",
"development",
"of",
"adult",
"T",
"-",
"cell",
"leukemia",
"/",
"lymphoma",
"(",
"ATL",
")",
",",
"an",
"aggressive",
"neoplastic",
"disease",
",",
"or",
"a",
"variety",
"of",
"immune",
"-",
"mediated",
"/",
"inflammatory",
"disorders",
"such",
"as",
"HTLV-1",
"associated",
"myelopathy",
"/",
"tropical",
"spastic",
"paraparesis",
"(",
"HAM",
"/",
"TSP",
")",
",",
"whereas",
"HTLV-2",
"is",
"less",
"pathogenic",
"."
] | [
0,
0,
3,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
2,
2,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
2,
2,
0,
3,
0,
3,
0,
0,
0,
3,
0,
0,
0,
0
] |
2103 | [
"Our",
"studies",
"focused",
"on",
"the",
"open",
"reading",
"frame",
"II",
"encoded",
"p28",
"protein",
"of",
"HTLV-2",
",",
"which",
"has",
"been",
"shown",
"to",
"negatively",
"regulate",
"viral",
"expression",
"by",
"the",
"nuclear",
"retention",
"of",
"the",
"tax",
"/",
"rex",
"mRNA",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2104 | [
"A",
"similar",
"post",
"-",
"transcriptional",
"regulatory",
"function",
"has",
"been",
"observed",
"with",
"HTLV-1",
"ORF",
"-",
"II",
"p30",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0
] |
2105 | [
"However",
",",
"p28",
"contrasts",
"p30",
"in",
"that",
"there",
"appears",
"to",
"be",
"no",
"significant",
"transcriptional",
"effects",
".",
"In",
"Chapter",
"2",
",",
"we",
"examined",
"the",
"functional",
"significance",
"of",
"p28",
"in",
"HTLV-2",
"infection",
",",
"proliferation",
",",
"and",
"immortalization",
"of",
"primary",
"T",
"-",
"cells",
"in",
"culture",
",",
"and",
"viral",
"infection",
"and",
"survival",
"in",
"a",
"rabbit",
"model",
"of",
"HTLV",
"infection",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0
] |
2106 | [
"We",
"generated",
"a",
"novel",
"HTLV-2",
"p28",
"termination",
"clone",
"(",
"HTLV2Deltap28",
")",
"in",
"which",
"a",
"stop",
"codon",
"had",
"been",
"introduced",
"into",
"the",
"p28",
"sequence",
"without",
"altering",
"the",
"amino",
"acid",
"sequence",
"of",
"the",
"overlapping",
"regulatory",
"proteins",
",",
"Tax",
"and",
"Rex",
"."
] | [
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2107 | [
"In",
"short",
"-",
"term",
"proliferation",
"and",
"long",
"-",
"term",
"immortalization",
"coculture",
"assays",
",",
"HTLV2Deltap28",
"infected",
"and",
"immortalized",
"primary",
"human",
"T",
"-",
"cells",
",",
"similar",
"to",
"wtHTLV-2",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2108 | [
"However",
",",
"HTLV2Deltap28",
"had",
"a",
"lower",
"capacity",
"to",
"establish",
"persistent",
"infection",
"in",
"rabbits",
",",
"indicating",
"the",
"in",
"vivo",
"importance",
"of",
"HTLV-2",
"p28",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0
] |
2109 | [
"These",
"results",
"are",
"consistent",
"with",
"the",
"hypothesis",
"that",
"p28",
"repression",
"of",
"Tax",
"and",
"Rex",
"-",
"mediated",
"viral",
"gene",
"expression",
"allows",
"infected",
"cells",
"to",
"avoid",
"immune",
"recognition",
"and",
"elimination",
",",
"or",
"acts",
"to",
"enhance",
"early",
"viral",
"spread",
"by",
"enhancing",
"the",
"survival",
"of",
"HTLV-2",
"infected",
"cells",
".",
"In",
"Chapter",
"3",
",",
"we",
"generated",
"and",
"characterized",
"various",
"dual",
"-",
"promoter",
"and",
"single",
"-",
"promoter",
"lentiviral",
"expression",
"vectors",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2110 | [
"Post",
"-",
"transduction",
",",
"p28",
"protein",
"was",
"readily",
"detected",
"with",
"the",
"dual",
"-",
"promoter",
"vectors",
"in",
"293",
"T",
"cells",
"but",
"not",
"in",
"Jurkat",
"T",
"-",
"cells",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2111 | [
"The",
"differential",
"p28",
"protein",
"expression",
"was",
"found",
"to",
"be",
"due",
"to",
"cell",
"-",
"type",
"specific",
"translation",
"mechanisms",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2112 | [
"To",
"circumvent",
"this",
"problem",
"we",
"utilized",
"a",
"single",
"-",
"promoter",
"lentiviral",
"vector",
"that",
"expresses",
"p28",
"via",
"the",
"murine",
"stem",
"cell",
"virus",
"(",
"MSCV)-promoter",
",",
"which",
"resulted",
"in",
"efficient",
"p28",
"protein",
"expression",
"in",
"both",
"T",
"-",
"cell",
"lines",
"and",
"primary",
"human",
"CD8",
"+",
"T",
"-",
"lymphocytes",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2113 | [
"In",
"Chapter",
"4",
",",
"the",
"capacity",
"of",
"p28",
"to",
"modify",
"cellular",
"gene",
"expression",
"was",
"examined",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2114 | [
"In",
"transient",
"transfection",
"studies",
",",
"low",
"doses",
"of",
"p28",
"modulated",
"CRE-",
"and",
"NFκB",
"-",
"driven",
"reporter",
"constructs",
"in",
"293",
"T",
"cells",
",",
"suggesting",
"the",
"ability",
"of",
"p28",
"in",
"modulating",
"cellular",
"gene",
"expression",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2115 | [
"Interestingly",
",",
"transduction",
"of",
"Jurkat",
"T",
"-",
"cells",
"with",
"the",
"lentiviral",
"p28",
"expression",
"vector",
"had",
"no",
"significant",
"effect",
"on",
"cellular",
"proliferation",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2116 | [
"Additionally",
",",
"initial",
"analysis",
"of",
"global",
"cellular",
"gene",
"expression",
"by",
"microarray",
"analysis",
"suggests",
"that",
"p28",
"results",
"in",
"nominal",
"alterations",
"in",
"cellular",
"gene",
"expression",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2117 | [
"Collectively",
",",
"data",
"presented",
"in",
"this",
"thesis",
"indicates",
"that",
"p28",
"is",
"critical",
"for",
"the",
"establishment",
"and",
"survival",
"of",
"HTLV-2",
",",
"compatible",
"with",
"the",
"conclusion",
"that",
"the",
"regulation",
"of",
"HTLV",
"gene",
"expression",
"is",
"a",
"tightly",
"controlled",
"and",
"complex",
"process",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2118 | [
"Ultimately",
",",
"while",
"minimal",
",",
"the",
"impact",
"of",
"p28",
"upon",
"cellular",
"genes",
"likely",
"contributes",
"to",
"HTLV-2",
"establishment",
"of",
"infection",
"in",
"vivo",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0
] |
2119 | [
"Marfan",
"syndrome",
"(",
"MFS",
")",
"is",
"a",
"heritable",
"connective",
"tissue",
"disorder",
"(",
"HCTD",
")",
"caused",
"by",
"pathogenic",
"variants",
"in",
"FBN1",
"that",
"frequently",
"occur",
"de",
"novo",
"."
] | [
1,
2,
0,
3,
0,
0,
0,
1,
2,
2,
2,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2120 | [
"Although",
"individuals",
"with",
"somatogonadal",
"mosaicisms",
"have",
"been",
"reported",
"with",
"respect",
"to",
"MFS",
"and",
"other",
"HCTD",
",",
"the",
"overall",
"frequency",
"of",
"parental",
"mosaicism",
"in",
"this",
"pathology",
"is",
"unknown",
"."
] | [
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
3,
0,
0,
3,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0
] |
2121 | [
"In",
"an",
"attempt",
"to",
"estimate",
"this",
"frequency",
",",
"we",
"reviewed",
"all",
"the",
"333",
"patients",
"with",
"a",
"disease",
"-",
"causing",
"variant",
"in",
"FBN1",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2122 | [
"We",
"then",
"used",
"direct",
"sequencing",
",",
"combined",
"with",
"High",
"Resolution",
"Melting",
"Analysis",
",",
"to",
"detect",
"mosaicism",
"in",
"their",
"parents",
",",
"complemented",
"by",
"NGS",
"when",
"a",
"mosaicism",
"was",
"objectivized",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0
] |
2123 | [
"We",
"found",
"that",
"(",
"1",
")",
"the",
"number",
"of",
"apparently",
"de",
"novo",
"events",
"is",
"much",
"higher",
"than",
"the",
"classically",
"admitted",
"number",
"(",
"around",
"50",
"%",
"of",
"patients",
"and",
"not",
"25",
"%",
"as",
"expected",
"for",
"FBN1",
")",
"and",
"(",
"2",
")",
"around",
"5",
"%",
"of",
"the",
"FBN1",
"disease",
"-",
"causing",
"variants",
"were",
"not",
"actually",
"de",
"novo",
"as",
"anticipated",
",",
"but",
"inherited",
"in",
"a",
"context",
"of",
"somatogonadal",
"mosaicisms",
"revealed",
"in",
"parents",
"from",
"three",
"families",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0
] |
2124 | [
"High",
"Resolution",
"Melting",
"Analysis",
"and",
"NGS",
"were",
"more",
"efficient",
"at",
"detecting",
"and",
"evaluating",
"the",
"level",
"of",
"mosaicism",
"compared",
"to",
"direct",
"Sanger",
"sequencing",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0
] |
2125 | [
"We",
"also",
"investigated",
"individuals",
"with",
"a",
"causal",
"variant",
"in",
"another",
"gene",
"identified",
"through",
"our",
"aortic",
"diseases",
"genes",
"NGS",
"panel",
"and",
"report",
",",
"for",
"the",
"first",
"time",
",",
"on",
"an",
"individual",
"with",
"a",
"somatogonadal",
"mosaicism",
"in",
"COL5A1",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0
] |
2126 | [
"Our",
"study",
"shows",
"that",
"parental",
"mosaicism",
"is",
"not",
"that",
"rare",
"in",
"Marfan",
"syndrome",
"and",
"should",
"be",
"investigated",
"with",
"appropriate",
"methods",
"given",
"its",
"implications",
"in",
"patient",
"'s",
"management",
"."
] | [
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2127 | [
"Background",
"The",
"high",
"incidence",
"of",
"aortic",
"disease",
"in",
"subjects",
"with",
"congenital",
"aortic",
"valve",
"malformations",
"suggests",
"a",
"causative",
"relationship",
"between",
"these",
"2",
"conditions",
"."
] | [
0,
0,
0,
5,
0,
1,
2,
0,
0,
0,
1,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2128 | [
"The",
"histological",
"observation",
"in",
"aortic",
"dilatation",
"/",
"aneurysm",
"/",
"dissection",
"is",
"Erdheim",
"cystic",
"medial",
"necrosis",
"(",
"CMN",
")",
",",
"a",
"noninflammatory",
"loss",
"of",
"smooth",
"muscle",
"cells",
"(",
"SMCs",
")",
",",
"fragmentation",
"of",
"elastic",
"fibers",
",",
"and",
"mucoid",
"degeneration",
"."
] | [
0,
0,
0,
0,
1,
2,
2,
2,
2,
2,
0,
1,
2,
2,
2,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2129 | [
"Methods",
"and",
"results",
"To",
"examine",
"whether",
"apoptosis",
"is",
"1",
"of",
"the",
"mechanisms",
"underlying",
"CMN",
"and",
"aortic",
"medial",
"layer",
"SMC",
"loss",
",",
"ascending",
"aortic",
"wall",
"specimens",
"from",
"32",
"patients",
"were",
"collected",
"at",
"cardiothoracic",
"surgery",
"and",
"examined",
"by",
"histochemical",
"staining",
"and",
"terminal",
"deoxynucleotidyl",
"transferase",
"-",
"mediated",
"deoxyuridine",
"triphosphate",
"nick",
"end",
"labeling",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2130 | [
"From",
"echocardiography",
"results",
",",
"4",
"groups",
"of",
"patients",
"were",
"identified",
":",
"bicuspid",
"valve",
"carriers",
"with",
"(",
"bi",
"/",
"dil",
")",
"or",
"without",
"(",
"bi/0",
")",
"aortic",
"dilatation",
"and",
"tricuspid",
"valve",
"carriers",
"with",
"(",
"tri",
"/",
"dil",
")",
"or",
"without",
"(",
"tri/0",
")",
"aortic",
"dilatation",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0
] |
2131 | [
"Massive",
"focal",
"apoptosis",
"was",
"observed",
"in",
"the",
"medial",
"layers",
"of",
"bi",
"/",
"dil",
"(",
"mean",
"apoptotic",
"index",
"[",
"mAI",
"]",
",",
"8.1+/-6.0",
")",
"and",
"tri",
"/",
"dil",
"(",
"mAI",
",",
"8.1+/-8.3",
")",
"compared",
"with",
"tri/0",
"(",
"mAI",
",",
"0.9+/-1.2",
";",
"P=0.0079",
"and",
"P=0.037",
")",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2132 | [
"In",
"bi/0",
"(",
"mAI",
",",
"9.1+/-5.7",
")",
"compared",
"with",
"tri/0",
"(",
"mAI",
",",
"0.9+/-1.2",
")",
",",
"rates",
"of",
"medial",
"SMC",
"apoptosis",
"were",
"increased",
"(",
"P=0.0025",
")",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2133 | [
"Bi",
"/",
"dil",
"(",
"mean",
"age",
",",
"40",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2134 | [
"6+/-15.7",
"years",
")",
"were",
"significantly",
"younger",
"than",
"tri",
"/",
"dil",
"(",
"mean",
"age",
",",
"56.4+/-12.8",
"years",
")",
"undergoing",
"the",
"same",
"operation",
"(",
"P=0.0123",
")",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2135 | [
"Conclusions",
"Premature",
"medial",
"layer",
"SMC",
"apoptosis",
"could",
"be",
"part",
"of",
"a",
"genetic",
"program",
"underlying",
"aortic",
"disease",
"in",
"patients",
"with",
"aortic",
"valve",
"malformations",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
1,
2,
2,
0
] |
2136 | [
"Inherited",
"epidermolysis",
"bullosa",
"is",
"a",
"group",
"of",
"genetic",
"diseases",
"characterized",
"by",
"skin",
"fragility",
"and",
"blistering",
"on",
"the",
"skin",
"and",
"mucous",
"membranes",
"in",
"response",
"to",
"minimal",
"trauma",
"."
] | [
1,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2137 | [
"Epidermolysis",
"bullosa",
"is",
"clinically",
"and",
"genetically",
"very",
"heterogeneous",
",",
"being",
"classified",
"into",
"four",
"main",
"types",
"according",
"to",
"the",
"layer",
"of",
"skin",
"in",
"which",
"blistering",
"occurs",
":",
"epidermolysis",
"bullosa",
"simplex",
"(",
"intraepidermal",
")",
",",
"junctional",
"epidermolysis",
"bullosa",
"(",
"within",
"the",
"lamina",
"lucida",
"of",
"the",
"basement",
"membrane",
")",
",",
"dystrophic",
"epidermolysis",
"bullosa",
"(",
"below",
"the",
"basement",
"membrane",
")",
",",
"and",
"Kindler",
"epidermolysis",
"bullosa",
"(",
"mixed",
"skin",
"cleavage",
"pattern",
")",
"."
] | [
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0,
0
] |
2138 | [
"Furthermore",
",",
"epidermolysis",
"bullosa",
"is",
"stratified",
"into",
"several",
"subtypes",
",",
"which",
"consider",
"the",
"clinical",
"characteristics",
",",
"the",
"distribution",
"of",
"the",
"blisters",
",",
"and",
"the",
"severity",
"of",
"cutaneous",
"and",
"extracutaneous",
"signs",
"."
] | [
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2139 | [
"Pathogenic",
"variants",
"in",
"at",
"least",
"16",
"genes",
"that",
"encode",
"proteins",
"essential",
"for",
"the",
"integrity",
"and",
"adhesion",
"of",
"skin",
"layers",
"have",
"already",
"been",
"associated",
"with",
"different",
"subtypes",
"of",
"epidermolysis",
"bullosa",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0
] |
2140 | [
"The",
"marked",
"heterogeneity",
"of",
"the",
"disease",
",",
"which",
"includes",
"phenotypes",
"with",
"a",
"broad",
"spectrum",
"of",
"severity",
"and",
"many",
"causal",
"genes",
",",
"hinders",
"its",
"classification",
"and",
"diagnosis",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2141 | [
"For",
"this",
"reason",
",",
"dermatologists",
"and",
"geneticists",
"regularly",
"review",
"and",
"update",
"the",
"classification",
"criteria",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2142 | [
"This",
"review",
"aimed",
"to",
"update",
"the",
"state",
"of",
"the",
"art",
"on",
"inherited",
"epidermolysis",
"bullosa",
",",
"with",
"a",
"special",
"focus",
"on",
"the",
"associated",
"clinical",
"and",
"genetic",
"aspects",
",",
"presenting",
"data",
"from",
"the",
"most",
"recent",
"reclassification",
"consensus",
",",
"published",
"in",
"2020",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
11,
0
] |
2143 | [
"The",
"aggressive",
"lymphoma",
",",
"extranodal",
"natural",
"killer",
"/",
"T",
"-",
"cell",
"lymphoma",
"-",
"nasal",
"type",
",",
"is",
"strongly",
"associated",
"with",
"Epstein",
"-",
"Barr",
"virus",
"(",
"EBV",
")",
"and",
"is",
"most",
"common",
"in",
"Asia",
"and",
"in",
"South",
"and",
"Central",
"America",
"."
] | [
0,
0,
1,
0,
1,
2,
2,
2,
2,
2,
2,
2,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
9,
0,
0,
9,
0,
10,
10,
0
] |
2144 | [
"By",
"contrast",
",",
"incidence",
"is",
"low",
"in",
"the",
"United",
"States",
"and",
"Europe",
",",
"where",
"extranodal",
"natural",
"killer",
"/",
"T",
"-",
"cell",
"lymphoma",
"represents",
"only",
"0.2%-0.4",
"%",
"of",
"all",
"newly",
"diagnosed",
"non",
"-",
"Hodgkin",
"lymphomas",
"."
] | [
0,
0,
0,
5,
0,
0,
0,
9,
10,
10,
0,
9,
0,
0,
1,
2,
2,
2,
2,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
0
] |
2145 | [
"At",
"diagnosis",
",",
"it",
"is",
"important",
"to",
"test",
"for",
"EBV",
"DNA",
"in",
"plasma",
"by",
"polymerase",
"chain",
"reaction",
"and",
"to",
"carry",
"out",
"positron",
"emission",
"tomography",
"/",
"computer",
"tomography",
"and",
"magnetic",
"resonance",
"imaging",
"of",
"the",
"nasopharynx",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2146 | [
"In",
"stage",
"I",
"/",
"II",
"disease",
",",
"radiotherapy",
"is",
"the",
"most",
"important",
"treatment",
"modality",
",",
"but",
"in",
"high",
"-",
"risk",
"stage",
"I",
"/",
"II",
"disease",
"(",
"stage",
"II",
",",
"age",
">",
"60",
"Y",
",",
"elevated",
"lactate",
"dehydrogenase",
",",
"Eastern",
"Cooperative",
"Oncology",
"Group",
"performance",
"score",
"≥2",
",",
"primary",
"tumor",
"invasion",
")",
",",
"it",
"should",
"be",
"combined",
"with",
"chemotherapy",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2147 | [
"The",
"most",
"optimal",
"responses",
"are",
"reached",
"with",
"nonmultidrug",
"resistance",
"-",
"based",
"therapy",
"(",
"eg",
",",
"asparaginase-",
"or",
"platinum",
"-",
"based",
"therapy",
")",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2148 | [
"Therapeutic",
"approaches",
"consist",
"of",
"either",
"platinum",
"-",
"based",
"concurrent",
"chemoradiotherapy",
"or",
"sequential",
"chemoradiotherapy",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2149 | [
"The",
"minimum",
"dose",
"of",
"radiotherapy",
"should",
"be",
"50",
"-",
"56",
"Gy",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2150 | [
"Treatment",
"of",
"stage",
"III",
"/",
"IV",
"disease",
"consists",
"of",
"3",
"cycles",
"of",
"chemotherapy",
"followed",
"by",
"autologous",
"hematopoietic",
"cell",
"transplantation",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2151 | [
"Allogeneic",
"hematopoietic",
"cell",
"transplantation",
"should",
"only",
"be",
"considered",
"in",
"case",
"of",
"relapsed",
"disease",
"or",
"after",
"difficulty",
"reaching",
"complete",
"remission",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2152 | [
"During",
"treatment",
"and",
"follow",
"-",
"up",
",",
"plasma",
"EBV",
"levels",
"should",
"be",
"monitored",
"as",
"a",
"marker",
"of",
"tumor",
"load",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2153 | [
"Rifampicin",
",",
"discovered",
"more",
"than",
"50",
"years",
"ago",
",",
"represents",
"the",
"last",
"novel",
"class",
"of",
"antibiotics",
"introduced",
"for",
"the",
"first",
"-",
"line",
"treatment",
"of",
"tuberculosis",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0
] |
2154 | [
"Drugs",
"in",
"this",
"class",
"form",
"part",
"of",
"a",
"6",
"-",
"month",
"regimen",
"that",
"is",
"ineffective",
"against",
"MDR",
"and",
"XDR",
"TB",
",",
"and",
"incompatible",
"with",
"many",
"antiretroviral",
"drugs",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2155 | [
"Investments",
"in",
"R&D",
"strategies",
"have",
"increased",
"substantially",
"in",
"the",
"last",
"decades",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2156 | [
"However",
",",
"the",
"number",
"of",
"new",
"drugs",
"approved",
"by",
"drug",
"regulatory",
"agencies",
"worldwide",
"does",
"not",
"increase",
"correspondingly",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
9,
0,
0,
0,
0,
0
] |
2157 | [
"Ruthenium",
"complexes",
"(",
"SCAR",
")",
"have",
"been",
"tested",
"in",
"our",
"laboratory",
"and",
"showed",
"promising",
"activity",
"against",
"Mycobacterium",
"tuberculosis",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0
] |
2158 | [
"These",
"complexes",
"showed",
"up",
"to",
"150",
"times",
"higher",
"activity",
"against",
"MTB",
"than",
"its",
"organic",
"molecule",
"without",
"the",
"metal",
"(",
"free",
"ligand",
")",
",",
"with",
"low",
"cytotoxicity",
"and",
"high",
"selectivity",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2159 | [
"In",
"this",
"study",
",",
"promising",
"results",
"inspired",
"us",
"to",
"seek",
"a",
"better",
"understanding",
"of",
"the",
"biological",
"activity",
"of",
"these",
"complexes",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2160 | [
"The",
"in",
"vitro",
"biological",
"results",
"obtained",
"with",
"the",
"SCAR",
"compounds",
"were",
"extremely",
"promising",
",",
"comparable",
"to",
"or",
"better",
"than",
"those",
"for",
"first",
"-",
"line",
"drugs",
"and",
"drugs",
"in",
"development",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2161 | [
"Moreover",
",",
"SCAR",
"1",
"and",
"4",
",",
"which",
"presented",
"low",
"acute",
"toxicity",
",",
"were",
"assessed",
"by",
"Ames",
"test",
",",
"and",
"results",
"demonstrated",
"absence",
"of",
"mutagenicity",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2162 | [
"Objective",
":",
"The",
"purpose",
"of",
"this",
"meta",
"-",
"analysis",
"of",
"longitudinal",
"studies",
"is",
"to",
"determine",
"the",
"safety",
"and",
"efficacy",
"of",
"artesunate",
"combined",
"with",
"other",
"forms",
"of",
"adjunctive",
"therapies",
"for",
"severe",
"malaria",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0
] |
2163 | [
"Methods",
":",
"Following",
"the",
"PRISMA",
"guidelines",
",",
"we",
"searched",
"multiple",
"databases",
"with",
"the",
"search",
"terms",
"artesunate",
"and",
"adjunctive",
"therapy",
"and",
"severe",
"malaria",
"in",
"July",
"2020",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
11,
12,
0
] |
2164 | [
"If",
"the",
"search",
"showed",
"a",
"randomized",
"controlled",
"trial",
",",
"the",
"study",
"was",
"included",
"in",
"this",
"meta",
"-",
"analysis",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2165 | [
"The",
"random",
"-",
"effects",
"model",
"was",
"used",
"to",
"calculate",
"the",
"combined",
"incidence",
"rate",
"and",
"relative",
"risk",
"or",
"risk",
"difference",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
5,
6,
6,
0,
0,
0,
0,
0,
0,
0
] |
2166 | [
"Results",
":",
"This",
"meta",
"-",
"analysis",
"included",
"nine",
"longitudinal",
"studies",
"with",
"724",
"participants",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2167 | [
"We",
"found",
"that",
"the",
"mortality",
"rates",
"in",
"the",
"artesunate",
"monotherapy",
"group",
"and",
"the",
"artesunate",
"+",
"adjuvant",
"therapy",
"group",
"are",
"similar",
"(",
"RD",
"=",
"-0.02",
",",
"95",
"%",
"confidence",
"interval",
":",
"-0.06",
"-",
"0.02",
")",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2168 | [
"The",
"incidence",
"of",
"adverse",
"reactions",
"in",
"the",
"artesunate",
"monotherapy",
"group",
"and",
"the",
"artesunate",
"+",
"adjuvant",
"therapy",
"group",
"was",
"also",
"similar",
"."
] | [
0,
5,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2169 | [
"Conclusion",
":",
"No",
"significant",
"differences",
"in",
"safety",
"and",
"efficacy",
"were",
"observed",
"between",
"the",
"artesunate",
"monotherapy",
"group",
"and",
"the",
"artesunate",
"+",
"adjuvant",
"therapy",
"group",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2170 | [
"Higher",
"quality",
"and",
"rigorously",
"designed",
"randomized",
"controlled",
"studies",
"are",
"needed",
"to",
"validate",
"our",
"findings",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2171 | [
"Vitamin",
"K",
"-",
"dependent",
"factor",
"X",
"(",
"FX",
")",
"plays",
"an",
"important",
"role",
"in",
"thrombin",
"formation",
",",
"and",
"a",
"deficiency",
"in",
"FX",
"can",
"cause",
"impaired",
"coagulation",
",",
"the",
"severity",
"of",
"which",
"is",
"usually",
"correlated",
"with",
"the",
"degree",
"of",
"deficiency",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2172 | [
"Due",
"to",
"the",
"critical",
"role",
"that",
"FX",
"plays",
"in",
"the",
"coagulation",
"cascade",
",",
"FX",
"deficiency",
"is",
"associated",
"with",
"a",
"higher",
"risk",
"of",
"bleeding",
"than",
"deficiencies",
"in",
"other",
"coagulation",
"factors",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2173 | [
"Patients",
"with",
"the",
"hereditary",
"autosomal",
"-",
"recessive",
"homozygous",
"form",
"of",
"FX",
"deficiency",
",",
"which",
"occurs",
"in",
"approximately",
"1:1,000,000",
"individuals",
"worldwide",
",",
"are",
"often",
"diagnosed",
"when",
"they",
"present",
"with",
"spontaneous",
"life",
"-",
"threatening",
"haemorrhage",
"(",
"most",
"often",
"intracranial",
"haemorrhage",
")",
"during",
"the",
"first",
"month",
"of",
"life",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
5,
0,
7,
8,
8,
9,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2174 | [
"In",
"addition",
"to",
"central",
"nervous",
"system",
"bleeds",
",",
"other",
"severe",
"bleeding",
"types",
"experienced",
"by",
"such",
"patients",
"may",
"include",
"umbilical",
"cord",
"bleeding",
",",
"gastrointestinal",
"or",
"pulmonary",
"haemorrhage",
",",
"intramuscular",
"haematomas",
"and/or",
"haemarthrosis",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2175 | [
"Delayed",
"treatment",
"or",
"inadequate",
"replacement",
"of",
"FX",
"may",
"result",
"in",
"developmental",
"delays",
",",
"musculoskeletal",
"disabilities",
"or",
"death",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2176 | [
"The",
"high",
"risk",
"of",
"recurrent",
"severe",
"bleeding",
"necessitates",
"prophylactic",
"replacement",
"therapy",
"for",
"many",
"individuals",
"with",
"severe",
"FX",
"deficiency",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0
] |
2177 | [
"Available",
"products",
"for",
"replacement",
"therapy",
"include",
"plasma",
"-",
"derived",
"FX",
"concentrate",
"and",
"prothrombin",
"complex",
"concentrates",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2178 | [
"Fresh",
"-",
"frozen",
"plasma",
"may",
"be",
"used",
"when",
"concentrates",
"are",
"not",
"available",
"but",
"is",
"a",
"less",
"efficient",
"means",
"of",
"FX",
"replacement",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2179 | [
"This",
"article",
"reviews",
"the",
"literature",
"on",
"severe",
"bleeding",
"in",
"individuals",
"with",
"hereditary",
"FX",
"deficiency",
"and",
"discusses",
"current",
"treatment",
"options",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0
] |
2180 | [
"A",
"series",
"of",
"simplex",
"cases",
"have",
"been",
"reported",
"under",
"various",
"diagnoses",
"sharing",
"early",
"aging",
",",
"especially",
"evident",
"in",
"congenitally",
"decreased",
"subcutaneous",
"fat",
"tissue",
"and",
"sparse",
"hair",
",",
"bone",
"dysplasia",
"of",
"the",
"skull",
"and",
"fingers",
",",
"a",
"distinctive",
"facial",
"gestalt",
",",
"and",
"prenatal",
"and",
"postnatal",
"growth",
"retardation",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2181 | [
"For",
"historical",
"reasons",
",",
"we",
"suggest",
"naming",
"the",
"entity",
"Fontaine",
"syndrome",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0
] |
2182 | [
"Exome",
"sequencing",
"of",
"four",
"unrelated",
"affected",
"individuals",
"showed",
"that",
"all",
"carried",
"the",
"de",
"novo",
"missense",
"variant",
"c.649C",
">",
"T",
"(",
"p.",
"Arg217Cys",
")",
"or",
"c.650G",
">",
"A",
"(",
"p.",
"Arg217His",
")",
"in",
"SLC25A24",
",",
"a",
"solute",
"carrier",
"25",
"family",
"member",
"coding",
"for",
"calcium",
"-",
"binding",
"mitochondrial",
"carrier",
"protein",
"(",
"SCaMC-1",
",",
"also",
"known",
"as",
"SLC25A24",
")",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2183 | [
"SLC25A24",
"allows",
"an",
"electro",
"-",
"neutral",
"and",
"reversible",
"exchange",
"of",
"ATP",
"-",
"Mg",
"and",
"phosphate",
"between",
"the",
"cytosol",
"and",
"mitochondria",
",",
"which",
"is",
"required",
"for",
"maintaining",
"optimal",
"adenine",
"nucleotide",
"levels",
"in",
"the",
"mitochondrial",
"matrix",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2184 | [
"Molecular",
"dynamic",
"simulation",
"studies",
"predict",
"that",
"p.",
"Arg217Cys",
"and",
"p.",
"Arg217His",
"narrow",
"the",
"substrate",
"cavity",
"of",
"the",
"protein",
"and",
"disrupt",
"transporter",
"dynamics",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2185 | [
"SLC25A24",
"-",
"mutant",
"fibroblasts",
"and",
"cells",
"expressing",
"p.",
"Arg217Cys",
"or",
"p.",
"Arg217His",
"variants",
"showed",
"altered",
"mitochondrial",
"morphology",
",",
"a",
"decreased",
"proliferation",
"rate",
",",
"increased",
"mitochondrial",
"membrane",
"potential",
",",
"and",
"decreased",
"ATP",
"-",
"linked",
"mitochondrial",
"oxygen",
"consumption",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2186 | [
"The",
"results",
"suggest",
"that",
"the",
"SLC25A24",
"mutations",
"lead",
"to",
"impaired",
"mitochondrial",
"ATP",
"synthesis",
"and",
"cause",
"hyperpolarization",
"and",
"increased",
"proton",
"leak",
"in",
"association",
"with",
"an",
"impaired",
"energy",
"metabolism",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2187 | [
"Our",
"findings",
"identify",
"SLC25A24",
"mutations",
"affecting",
"codon",
"217",
"as",
"the",
"underlying",
"genetic",
"cause",
"of",
"human",
"progeroid",
"Fontaine",
"syndrome",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
0
] |
2188 | [
"Usher",
"syndrome",
"type",
"1",
"(",
"US1",
")",
"is",
"an",
"autosomal",
"recessive",
"disease",
"characterized",
"by",
"profound",
"congenital",
"hearing",
"impairment",
"with",
"unintelligible",
"speech",
",",
"early",
"retinitis",
"pigmentosa",
",",
"and",
"constant",
"vestibular",
"dysfunction",
"."
] | [
1,
2,
2,
2,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2189 | [
"Three",
"localizations",
"have",
"been",
"described",
"in",
"US1",
":",
"USH1A",
",",
"14q32",
";",
"USH1B",
",",
"11q13.5",
";",
"and",
"USH1C",
",",
"11p15",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
3,
0,
0,
0,
0,
3,
0,
0,
0
] |
2190 | [
"Studying",
"a",
"series",
"of",
"33",
"affected",
"individuals",
"belonging",
"to",
"20",
"US1",
"pedigrees",
"of",
"French",
"ancestry",
",",
"we",
"found",
"that",
"none",
"of",
"the",
"three",
"localizations",
"accounted",
"for",
"all",
"US1",
"families",
"in",
"our",
"series",
"(",
"Zmax",
"=",
"1.48",
"at",
"theta",
"=",
"0.10",
";",
"Zmax",
"=",
"1.45",
"at",
"theta",
"=",
"0.10",
";",
"and",
"Zmax",
"=",
"0.36",
"at",
"theta",
"=",
"0.20",
"for",
"probes",
"MLJ14",
",",
"Zd5",
",",
"and",
"Mfd58",
",",
"respectively",
",",
"at",
"loci",
"D14S13",
",",
"D11S527",
",",
"and",
"D11S419",
",",
"respectively",
")",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
15,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2191 | [
"However",
",",
"when",
"our",
"sample",
"was",
"split",
"into",
"two",
"groups",
"according",
"to",
"the",
"geographic",
"origin",
"of",
"the",
"probands",
"'",
"grandparents",
",",
"we",
"were",
"able",
"to",
"confirm",
"the",
"presence",
"of",
"a",
"gene",
"for",
"US1",
"on",
"chromosome",
"14q32",
"(",
"USH1A",
")",
"in",
"9",
"families",
"originating",
"from",
"the",
"Poitou",
"region",
"in",
"Western",
"France",
"(",
"Department",
"of",
"Deux",
"-",
"Sevres",
";",
"Zmax",
"=",
"4.46",
"at",
"theta",
"=",
"0",
"for",
"probe",
"MLJ14",
"at",
"the",
"D14S13",
"locus",
",",
"Morton",
"likelihood",
"ratio",
"test",
",",
"P",
"<",
"0.01",
")",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
9,
10,
10,
10,
10,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2192 | [
"Moreover",
",",
"we",
"refined",
"the",
"genetic",
"mapping",
"of",
"USH1A",
"by",
"showing",
"that",
"the",
"disease",
"gene",
"maps",
"to",
"the",
"D14S13",
"locus",
",",
"within",
"the",
"genetic",
"interval",
"defined",
"by",
"loci",
"D14S78",
"and",
"D14S250",
"(",
"location",
"score",
"in",
"log",
"base",
"10",
"=",
"4.90",
")",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2193 | [
"Consistent",
"with",
"this",
",",
"nonsignificant",
"lod",
"score",
"values",
"for",
"linkage",
"to",
"either",
"USH1B",
"or",
"USH1C",
"were",
"found",
"in",
"this",
"group",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
3,
0,
0,
0,
0,
0,
0
] |
2194 | [
"(",
"ABSTRACT",
"TRUNCATED",
"AT",
"250",
"WORDS",
")"
] | [
0,
0,
0,
0,
0,
0,
0
] |
2195 | [
"Little",
"information",
"is",
"available",
"on",
"the",
"prevalence",
",",
"geographic",
"distribution",
"and",
"mutation",
"spectrum",
"of",
"genetic",
"skeletal",
"disorders",
"(",
"GSDs",
")",
"in",
"China",
"."
] | [
0,
0,
0,
0,
0,
0,
5,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
3,
0,
0,
9,
0
] |
2196 | [
"This",
"study",
"systematically",
"reviewed",
"GSDs",
"as",
"defined",
"in",
"Nosology",
"and",
"Classification",
"of",
"genetic",
"skeletal",
"disorders",
"(",
"2010",
"version",
")",
"using",
"Chinese",
"biomedical",
"literature",
"published",
"over",
"the",
"past",
"34",
"years",
"from",
"1978",
"to",
"2012",
"."
] | [
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
15,
0,
0,
0,
0,
0,
0,
0,
0,
0,
11,
12,
12,
0
] |
2197 | [
"In",
"total",
",",
"16,099",
"GSDs",
"have",
"been",
"reported",
"."
] | [
0,
0,
0,
0,
3,
0,
0,
0,
0
] |
2198 | [
"The",
"most",
"frequently",
"reported",
"disorders",
"were",
"Marfan",
"syndrome",
",",
"osteogenesis",
"imperfecta",
",",
"fibrous",
"dysplasia",
",",
"mucopolysaccharidosis",
",",
"multiple",
"cartilaginous",
"exostoses",
",",
"neurofibromatosis",
"type",
"1",
"(",
"NF1",
")",
",",
"osteopetrosis",
",",
"achondroplasia",
",",
"enchondromatosis",
"(",
"Ollier",
")",
",",
"and",
"osteopoikilosis",
",",
"accounting",
"for",
"76.5",
"%",
"(",
"12,312",
"cases",
")",
"of",
"the",
"total",
"cases",
"."
] | [
0,
0,
0,
0,
0,
0,
1,
2,
0,
1,
2,
0,
1,
2,
0,
1,
0,
1,
2,
2,
0,
1,
2,
2,
0,
3,
0,
0,
1,
0,
1,
0,
1,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] |
2199 | [
"Five",
"groups",
"(",
"group",
"8",
",",
"12",
",",
"14",
",",
"18",
",",
"21",
")",
"defined",
"by",
"Nosology",
"and",
"Classification",
"of",
"genetic",
"skeletal",
"disorders",
"have",
"not",
"been",
"reported",
"in",
"the",
"Chinese",
"biomedical",
"literature",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
0,
0,
0,
0,
0,
0,
15,
0,
0,
0
] |