Characterization of the ZBTB42 gene in humans and mice.

abstract：:A simple routine method for detecting individuals who are heterozygous for the silent gene Gt 0 is presented. This method consists of a combination of electrophoresis and densitometry. The results confirm the theoretical expectation that these individuals would exhibit about 50% of the enzyme activity found in the cor...

journal_title：Human genetics

authors： Siebert G,Kömpf J,Ritter H

更新日期：1980-01-01 00:00:00

abstract：:We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and interpretation of de novo (dn) apparently balanced chromosomal abnormalities (BCA) in prenatal diagnosis (PND). Retrospective or concomitant with conventional PND and liGS, molecular ...

journal_title：Human genetics

authors： David D,Freixo JP,Fino J,Carvalho I,Marques M,Cardoso M,Piña-Aguilar RE,Morton CC

更新日期：2020-04-01 00:00:00

abstract：:Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high prevalence-1 out of 3000 live births-their etiology is not yet established and both environmental and genetic factors have been proposed, with a heritability rate of a...

journal_title：Human genetics

authors： Beaumont M,Akloul L,Carré W,Quélin C,Journel H,Pasquier L,Fradin M,Odent S,Hamdi-Rozé H,Watrin E,Dupé V,Dubourg C,David V

更新日期：2019-04-01 00:00:00

abstract：:The human gene locus c-MEL was identified following transfection of genomic DNA from the human melanoma cell line NK14; it has previously been assigned to chromosome 19 (p13.2-q13.2) by analysis of somatic cell hybrids. We have further refined the position of this gene to the proximal region of 19p (cen-p13.2), using ...

journal_title：Human genetics

authors： Nimmo E,Padua RA,Hughes D,Brook JD,Williamson R,Johnson KJ

更新日期：1989-03-01 00:00:00

abstract：:To determine whether the CLCA gene family of calcium-activated chloride channels is a modulator of the basic defect of cystic fibrosis (CF), an association study was performed with polymorphic microsatellite markers covering a 40-Mbp region spanning the CLCA gene locus on human chromosome 1p in CF patients displaying ...

journal_title：Human genetics

authors： Ritzka M,Stanke F,Jansen S,Gruber AD,Pusch L,Woelfl S,Veeze HJ,Halley DJ,Tümmler B

更新日期：2004-11-01 00:00:00

abstract：:The karyotypes of more than 60 species of Primates are studied and compared, with the use of almost all existing banding techniques. There is a very close analogy of chromosome banding between the Simians studied and man. The quantitative or qualitative variations detected all involve the heterochromatin. It is very l...

journal_title：Human genetics

authors： Dutrillaux B

更新日期：1979-05-10 00:00:00

abstract：:Our understanding of the process of autophagy and its role in health and diseases has grown remarkably in the last two decades. Early work established autophagy as a general bulk recycling process which involves the sequestration and transport of intracellular material to the lysosome for degradation. Currently, autop...

journal_title：Human genetics

authors： Wong SQ,Kumar AV,Mills J,Lapierre LR

更新日期：2020-03-01 00:00:00

abstract：:Genetic factors strongly influence risk of common human diseases and treatment outcomes but the causative variants remain largely unknown; this gap has been called the 'missing heritability'. We propose several hypotheses that in combination have the potential to narrow the gap. First, given a multi-stage path from we...

journal_title：Human genetics

authors： Sadee W,Hartmann K,Seweryn M,Pietrzak M,Handelman SK,Rempala GA

更新日期：2014-10-01 00:00:00

abstract：:We present clinical, cytogenetic, and linkage data of four DNA probes from the terminal long arm of the X chromosome in ten new families with fragile X syndrome. A prior/posterior method of multipoint linkage analysis is employed to combine these results with published data to refine the linkage map of terminal Xq. Te...

journal_title：Human genetics

authors： Buchanan JA,Buckton KE,Gosden CM,Newton MS,Clayton JF,Christie S,Hastie N

更新日期：1987-06-01 00:00:00

abstract：:We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp from exon 17B. ...

journal_title：Human genetics

authors： Morral N,Girbau E,Zielenski J,Nunes V,Casals T,Tsui LC,Estivill X

更新日期：1992-01-01 00:00:00

abstract：:The length of 44 silver-stained human autosomal pachytene complements was shown to vary from about 300 micrometer to at least 535 micrometer. The lengths of the individual 22 autosomal chromosomes of eight complements representing this interval was measured and the relative lengths calculated. For most of the chromoso...

journal_title：Human genetics

authors： Jørgensen AL,Bak AL

更新日期：1981-01-01 00:00:00

abstract：:Genetic polymorphisms in the apolipoprotein B (apoB) gene have been reported to be associated with altered serum lipids and susceptibility to cholesterol gallstones (GS). Gallstones are among the well-known risk factors for carcinoma of the gallbladder (GBC). In the present study, the association between the XbaI poly...

journal_title：Human genetics

authors： Singh MK,Pandey UB,Ghoshal UC,Srivenu I,Kapoor VK,Choudhuri G,Mittal B

更新日期：2004-02-01 00:00:00

abstract：:5'-Bromodeoxyuridine (BrdU) present in the course of late S and G2 phases of the cell cycle in PHA-stimulated human lymphocyte cultures causes the despiralization and elongation of some chromosome regions, including short arms of acrocentric chromosomes. BrdU present at a concentration of 250 microM during the last 10...

journal_title：Human genetics

authors： Musilová J,Michalová K,Hoffmanová H

更新日期：1983-01-01 00:00:00

abstract：:Mutations in the cystic fibrosis (CF) conductance transmembrane regulator (CFTR) gene have been detected in patients with CF and in males with infertility attributable to congenital bilateral absence of the vas deferens (CBAVD). Thirty individuals with CBAVD and 10 with congenital unilateral absence of the vas deferen...

journal_title：Human genetics

authors： Casals T,Bassas L,Ruiz-Romero J,Chillón M,Giménez J,Ramos MD,Tapia G,Narváez H,Nunes V,Estivill X

更新日期：1995-02-01 00:00:00

abstract：:Carriers of the deltaccr5 allele, which contains a deletion of 32 bases in relation to the normal allele of the beta-chemokine receptor gene (CCR5), have increased resistance to HIV-1 infection. The higher frequency of this mutation in Europeans than in Blacks and Asians, has generated interest in determining its dist...

journal_title：Human genetics

authors： Leboute AP,de Carvalho MW,Simões AL

更新日期：1999-11-01 00:00:00

abstract：:HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in wo brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was characterized by an increased Km for both substrates, a normal Vmax, a decreased intracellular con...

journal_title：Human genetics

authors： Fujimori S,Hidaka Y,Davidson BL,Palella TD,Kelley WN

更新日期：1988-05-01 00:00:00

abstract：:Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respective...

journal_title：Human genetics

authors： Mackay DJ,Hahnemann JM,Boonen SE,Poerksen S,Bunyan DJ,White HE,Durston VJ,Thomas NS,Robinson DO,Shield JP,Clayton-Smith J,Temple IK

更新日期：2006-03-01 00:00:00

abstract：:Subjects in the National Academy of Sciences-National Research Council Twin Registry of 31,848 male twin veterans were followed for mortality from 1 January 1946, or from the date of entry into military service if that was later, to 31 December 1978. During this time 3,573 deaths occurred among them, 837 due to trauma...

journal_title：Human genetics

authors： Hrubec Z,Neel JV

更新日期：1981-01-01 00:00:00

abstract：:A pachytene chromomere map of bivalent 10 is presented. Recent results from high-resolution metaphase banding document a similar pattern of intrachromosomal differentiation. ...

journal_title：Human genetics

authors： Hungerford DA,Hungerford AM

更新日期：1979-11-01 00:00:00

abstract：:Twelve diseases, most with neuropsychiatric features, arise from trinucleotide repeat expansion mutations. Expansion mutations may also cause a number of other disorders, including several additional forms of spinocerebellar ataxia, bipolar affective disorder, schizophrenia, and autism. To obtain candiate genes for th...

journal_title：Human genetics

authors： Margolis RL,Abraham MR,Gatchell SB,Li SH,Kidwai AS,Breschel TS,Stine OC,Callahan C,McInnis MG,Ross CA

更新日期：1997-07-01 00:00:00

abstract：:Dysregulation of the one-carbon metabolic pathway, which controls nucleotide synthesis and DNA methylation, may promote lymphomagenesis. We evaluated the association between polymorphisms in one-carbon metabolism genes and risk of non-Hodgkin lymphoma (NHL) in a population-based case-control study in Australia. Cases ...

journal_title：Human genetics

authors： Lee KM,Lan Q,Kricker A,Purdue MP,Grulich AE,Vajdic CM,Turner J,Whitby D,Kang D,Chanock S,Rothman N,Armstrong BK

更新日期：2007-12-01 00:00:00

abstract：:A combination of Southern blot analysis on a panel of tumor-derived somatic cell hybrids and fluorescence in situ hybridization (FISH) techniques was used to map a series of DNA markers relative to the 1q21 breakpoint of the renal cell carcinoma (RCC)-associated (X;1)-(p11;q21) translocation. This breakpoint maps betw...

journal_title：Human genetics

authors： Weterman MA,Wilbrink M,Dijkhuizen T,van den Berg E,Geurts van Kessel A

更新日期：1996-07-01 00:00:00

abstract：:The maternal age distribution of 45,X abortuses was significantly lower than that of chromosomally normal abortuses in two co-ordinated studies. One, carried out in Geneva, included 44 X-monosomic abortuses and the other, in Hiroshima, was based on 38 abortuses with a 45,X karyotype. It was deduced that 45,X conceptus...

journal_title：Human genetics

authors： Kajii T,Ohama K

更新日期：1979-10-01 00:00:00

abstract：:The genetic types of the properdin factor B were analyzed by isoelectric focusing on polyacrylamide gels and subsequent immunofixation. Sera from 516 unrelated, healthy individuals from Southern Germany were examined. Two new subtypes of the Bf*S allele were observed. They were provisionally named Bf*Sb1 and Bf*Sb2(b ...

journal_title：Human genetics

authors： Weidinger S,Schwarzfischer F,Burgemeister R,Cleve H

更新日期：1984-01-01 00:00:00

abstract：:Databases of disease-associated or disease-causing mutations allow the study, not only of the molecular mechanisms underlying the primary lesions at the DNA level, but also of the functional consequences of mutation at the phenotypic level. The Human Gene Mutation Database (HGMD) and the bioinformatics analyses of its...

journal_title：Human genetics

authors： Knecht C,Krawczak M

更新日期：2014-04-01 00:00:00

abstract：:The frequencies of base-line and Mitomycin-C (MMC) induced sister chromatid exchanges (SCE) were surveyed in four inbred strains of mice. In contrast to the C57Bl/6J, CBA/J, and A/J strains where frequencies of SCE increased linearly with increasing dose of MMC, levels of SCE were significantly lower in AKR/J mice at ...

journal_title：Human genetics

authors： Kram D,Schneider EL

更新日期：1978-02-23 00:00:00

abstract：:We identified two additional mutations in the ferrochelatase gene in two Swiss patients with erythropoietic protoporphyria (EPP). Ferrochelatase cDNA from patients was amplified by the polymerase chain reaction (PCR) and subjected to mutation analysis by sequencing PCR products either directly or after subcloning. The...

journal_title：Human genetics

authors： Schneider-Yin X,Schäfer BW,Möhr P,Burg G,Minder EI

更新日期：1994-06-01 00:00:00

abstract：:Serum samples from 170 unrelated individuals from the Suceava District of Roumania and from 199 unrelated individuals from Bucharest, Roumania were tested fro Gm(1,2,3,5,6,13,14,17,21) and Km(1)[Inv(1)]. Selected samples were also tested for Gm(15) and Gm(16). The frequencies of the three common Caucasoid haplotypes, ...

journal_title：Human genetics

authors： Johnson WE,Kohn PH,Steinberg AG

更新日期：1977-11-10 00:00:00

abstract：:A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...

journal_title：Human genetics

authors： Bloom SE,Goodpasture C

更新日期：1976-10-28 00:00:00

abstract：:The vasopressin V2 receptor (V2R) and the aquaporin-2 genes of two unrelated male patients with congenital nephrogenic diabetes insipidus were analyzed. The V2R gene of the patient of family 1 had the wild-type sequence. Consequently, the coding region of the aquaporin-2 gene including the exon-intron junctions was se...

journal_title：Human genetics

authors： Oksche A,Möller A,Dickson J,Rosendahl W,Rascher W,Bichet DG,Rosenthal W

更新日期：1996-11-01 00:00:00