Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease.

abstract：:Spermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function an...

journal_title：Human genetics

authors： Touré A,Martinez G,Kherraf ZE,Cazin C,Beurois J,Arnoult C,Ray PF,Coutton C

更新日期：2020-01-16 00:00:00

abstract：:A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the pe...

journal_title：Human genetics

authors： Tsuda M,Sei Y,Matsumoto M,Kamiguchi H,Yamamoto M,Shinohara Y,Igarashi T,Yamamura M

更新日期：1992-12-01 00:00:00

abstract：:Two single point mutations in the alpha-1-antitrypsin gene, resulting in AAT deficiency, have been characterised in heterozygotes by DNA amplification and direct sequencing. The mutations result in amino acid substitutions, Gly115----Ser and Ser-19----Leu, in the leader sequence, respectively, and have been designated...

journal_title：Human genetics

authors： Graham A,Kalsheker NA,Bamforth FJ,Newton CR,Markham AF

更新日期：1990-10-01 00:00:00

abstract：:A significantly higher frequency of baseline sister chromatid exchange (SCE) was found in the cultured lymphocytes of 13 Blackfoot disease patients (BFP) in comparison with that of healthy persons (HP). Twelve of these BFP consumed well water containing a high concentration of arsenic for 15 years or longer and had sw...

journal_title：Human genetics

authors： Wen WN,Lieu TL,Chang HJ,Wuu SW,Yau ML,Jan KY

更新日期：1981-01-01 00:00:00

abstract：:Six polymorphic restriction enzyme sites in the beta-globin gene cluster were investigated in Yanomama Indians from the Amazon region of Brazil, using the polymerase chain reaction (PCR) technique. Four haplotypes were identified; the haplotype frequency distribution is similar to those reported for Polynesians, Micro...

journal_title：Human genetics

authors： Guerreiro JF,Figueiredo MS,Santos SE,Zago MA

更新日期：1992-08-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Usi...

journal_title：Human genetics

authors： Mitchell SL,Goodloe R,Brown-Gentry K,Pendergrass SA,Murdock DG,Crawford DC

更新日期：2014-07-01 00:00:00

abstract：:Disease-causing mutations have been identified in various entities of autosomal dominant ataxia and in Friedreich's ataxia. However, no molecular pathogenic factor is known to cause idiopathic cerebellar ataxias. We investigated the CAG/CTG trinucleotide repeats causing spinocerebellar ataxia types 1, 2, 3, 6, 7, 8 an...

journal_title：Human genetics

authors： Schöls L,Szymanski S,Peters S,Przuntek H,Epplen JT,Hardt C,Riess O

更新日期：2000-08-01 00:00:00

abstract：:The most common form of chronic granulomatous disease (CGD) is caused by mutations in the CYBB gene that is carried on the X-chromosome and give rise to the X-linked form of the disease. The product of this gene is the large subunit of flavocytochrome b558, gp91phox, the catalytic core of the superoxide-generating enz...

journal_title：Human genetics

authors： Noack D,Heyworth PG,Kyono W,Cross AR

更新日期：2001-08-01 00:00:00

abstract：:Cytogenetic and molecular genetic findings in 91 patients with Turner syndrome are reported. In 87 patients, chromosome studies were carried out both in lymphocyte and fibroblast cultures. Mosaicism was demonstrated in 58 of these patients (66.7%), whereas only 18 (20.7%) were apparent non-mosaic 45,X, and 11 patients...

journal_title：Human genetics

authors： Held KR,Kerber S,Kaminsky E,Singh S,Goetz P,Seemanova E,Goedde HW

更新日期：1992-01-01 00:00:00

abstract：:Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five pregnancies that showed confined chorionic mosaicism for trisomies 12, 13, 14, 17 and a marker chromosome. Cytogenetic findings in these pregnancies support the con...

journal_title：Human genetics

authors： Kalousek DK,Dill FJ,Pantzar T,McGillivray BC,Yong SL,Wilson RD

更新日期：1987-10-01 00:00:00

abstract：:Premature ovarian failure (POF) is an unexplained amenorrhoea (>6 months) with raised levels of gonadotropins (FSH>40 U/L) occurring before the age of 40 years. Recent studies have elucidated the role of oocyte derived growth factors (BMP15 and GDF9) in maintenance of folliculogenesis, granulosa cell (GC) proliferatio...

journal_title：Human genetics

authors： Dixit H,Rao LK,Padmalatha VV,Kanakavalli M,Deenadayal M,Gupta N,Chakrabarty B,Singh L

更新日期：2006-05-01 00:00:00

abstract：:GM1 Gangliosidosis is an autosomal recessive genetic disorder due to deficiency of the lysosome enzyme beta-galactosidase, with consequent tissue accumulation of glycolipids, oligosaccharides, and especially GM1 ganglioside. In the present paper we report the clinical and laboratory findings obtained for eight familie...

journal_title：Human genetics

authors： Giugliani R,Dutra JC,Pereira ML,Rotta N,Drachler Mde L,Ohlweiller L,Pina Neto JM,Pinheiro CE,Breda DJ

更新日期：1985-01-01 00:00:00

abstract：:The genetic heterogeneity of severe von Willebrand disease (vWd) type III was estimated by analysing extended haplotypes of eleven intragenic restriction fragment length polymorphisms and one variable number of tandem repeat polymorphism in 32 patients from 28 families from Germany or of German origin. All patients we...

journal_title：Human genetics

authors： Schneppenheim R,Krey S,Bergmann F,Bock D,Budde U,Lange M,Linde R,Mittler U,Meili E,Mertes G

更新日期：1994-12-01 00:00:00

abstract：:Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows th...

journal_title：Human genetics

authors： Schleutker J,Haataja L,Renlund M,Puhakka L,Viitala J,Peltonen L,Aula P

更新日期：1991-11-01 00:00:00

abstract：:We have isolated cDNA clones from a human NK cell cDNA library that encode the serine protease granzyme B. Although the sequence of the entire coding region for the mature protein and the 3' untranslated region of the clone are identical to other cDNA isolates of this gene obtained from human T cell cDNA libraries, th...

journal_title：Human genetics

authors： Dahl CA,Bach FH,Chan W,Huebner K,Russo G,Croce CM,Herfurth T,Cairns JS

更新日期：1990-04-01 00:00:00

abstract：:X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked com...

journal_title：Human genetics

authors： Takechi T,Tohyama J,Kurashige T,Maruta K,Uyemura K,Ohi T,Matsukura S,Sakuragawa N

更新日期：1996-03-01 00:00:00

abstract：:The family of diacylglycerol kinases (DAGKs) is known to play an important role in signal transduction linked to phospholipid turnover. In the fruitfly Drosophila melanogaster, a human DAGK ortholog, DGK2, was shown to underlie the phenotype of the visual mutant retinal degeneration A (rdgA). Previously, the gene enco...

journal_title：Human genetics

authors： Stöhr H,Klein J,Gehrig A,Koehler MR,Jurklies B,Kellner U,Leo-Kottler B,Schmid M,Weber BH

更新日期：1999-01-01 00:00:00

abstract：:Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a mar...

journal_title：Human genetics

authors： Guioli S,Arveiler B,Bardoni B,Notarangelo LD,Panina P,Duse M,Ugazio A,Oberlé I,de Saint Basile G,Mandel JL

更新日期：1989-12-01 00:00:00

abstract：:High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene responsible for this condition is mostly unknown. We identified a large Chinese family with autosomal dominant high hyperopia. A genome-wide linkage scan mapped t...

journal_title：Human genetics

authors： Xiao X,Sun W,Ouyang J,Li S,Jia X,Tan Z,Hejtmancik JF,Zhang Q

更新日期：2019-10-01 00:00:00

abstract：:Recently the defective gene locus in seven Caucasian families with the Romano-Ward form of long QT syndrome (LQT) has been mapped to chromosome 11p. To understand the molecular basis of LQT in Chinese, a three-generation family was investigated. Fourteen family members were studied and five individuals were diagnosed ...

journal_title：Human genetics

authors： Ko YL,Chen SA,Tang TK,Lin JL,Chiang CE,Chen JJ,Teng MS,Chang MS,Lien WP,Wu CW

更新日期：1994-10-01 00:00:00

abstract：:HLA markers (A, B, C, DR loci) were determined for the members of 52 unrelated families with at least one child suffering from congenital adrenal hyperplasia due to 21 hydroxylase deficiency, permitting genotyping. The gene frequencies of the 52 index cases were compared with those obtained from the patients' normal h...

journal_title：Human genetics

authors： Couillin P,Kottler-Missonnier ML,Grisard MC,Hors J,Feingold J,Boué J,Boué A

更新日期：1980-01-01 00:00:00

abstract：:Thymidylate synthase (TYMS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) may compete for their common cofactor 5,10-methylenetetrahyhdrofolate (5,10-meTHF). Limiting 5,10-meTHF results in elevated homocysteine, especially in individuals homozygous for the T allele of the MTHFR C677T polymorphism. The TYMS gene...

journal_title：Human genetics

authors： Brown KS,Kluijtmans LA,Young IS,McNulty H,Mitchell LE,Yarnell JW,Woodside JV,Boreham CA,McMaster D,Murray L,Strain JJ,Whitehead AS

更新日期：2004-01-01 00:00:00

abstract：:Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...

journal_title：Human genetics

authors： Kehrer-Sawatzki H,Kluwe L,Fünsterer C,Mautner VF

更新日期：2005-05-01 00:00:00

abstract：:About 20% of leukemic bone marrow cells from each of two patients with B-cell lymphoid leukemias showed apparent translocations which appeared to be the result of telomeric association. In one patient, whole chromosomes were associated telomere to telomere in pairs; in the other patient, telomeres of whole chromosomes...

journal_title：Human genetics

authors： Fitzgerald PH,Morris CM

更新日期：1984-01-01 00:00:00

abstract：:Chromosomal analysis from aborted tissue has become an important diagnostic aid. However, the necessary cultures are frequently unsuccessful due to the condition of the aborted tissue. Polyploidy, in particular triploidy, in the conceptus is a common cause of early pregnancy loss and unlike aneuploidy does not appear ...

journal_title：Human genetics

authors： Riekki K,Baillie JE,Nair KK,Dill FJ,Poland BJ,Baillie DL

更新日期：1977-07-26 00:00:00

abstract：:Idiopathic basal ganglia calcification (IBGC) is characterised by radiological, neurological, cognitive and psychiatric abnormalities. The associations between these abnormal phenotypes and abnormal genes remain unclear despite the recent mapping to chromosome 14q of a susceptibility locus for IBGC ( IBGC1). We identi...

journal_title：Human genetics

authors： Brodaty H,Mitchell P,Luscombe G,Kwok JJ,Badenhop RF,McKenzie R,Schofield PR

更新日期：2002-01-01 00:00:00

abstract：:The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitiv...

journal_title：Human genetics

authors： Crolla JA,Llerena JC Jr

更新日期：1988-12-01 00:00:00

abstract：:Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to ...

journal_title：Human genetics

authors： Schnee J,Aulehla-Scholz C,Eigel A,Horst J

更新日期：1990-03-01 00:00:00

abstract：:Familial and twin studies have shown that the individual variability of the normal human electroencephalogram (EEG) is largely genetically determined. In epileptology, these genetic parameters of the EEG background activity are almost totally neglected. The aim of the present study has been to investigate whether a sp...

journal_title：Human genetics

authors： Doose H,Castiglione E,Waltz S

更新日期：1995-12-01 00:00:00

abstract：:To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3' of exon 3 of the leptin gene. Common alleles shared among p...

journal_title：Human genetics

authors： Moffett S,Martinson J,Shriver MD,Deka R,McGarvey ST,Barrantes R,Ferrell RE

更新日期：2002-05-01 00:00:00