Towards a unified nomenclature describing voltage-gated calcium channel genes.

abstract：:We have studied the allele frequency distribution of the microsatellite locus DYS19 in several populations with different geographical origins worldwide. Three new alleles were found. In addition, remarkable geographic and ethnic differences were observed in the allele frequency profiles and DNA marker (gene) diversit...

journal_title：Human genetics

authors： Santos FR,Gerelsaikhan T,Munkhtuja B,Oyunsuren T,Epplen JT,Pena SD

更新日期：1996-03-01 00:00:00

abstract：:Development of protective immunity against Plasmodium falciparum is partially mediated through binding of malaria-specific IgG to Fc gamma (γ) receptors. Variations in human FcγRIIA-H/R-131 and FcγRIIIB-NA1/NA2 affect differential binding of IgG sub-classes. Since variability in FcγR may play an important role in seve...

journal_title：Human genetics

authors： Ouma C,Davenport GC,Garcia S,Kempaiah P,Chaudhary A,Were T,Anyona SB,Raballah E,Konah SN,Hittner JB,Vulule JM,Ong'echa JM,Perkins DJ

更新日期：2012-02-01 00:00:00

abstract：:To dissect the genetic architecture of sexual dimorphism in obesity-related traits, we evaluated the sex-genotype interaction, sex-specific heritability and genome-wide linkages for seven measurements related to obesity. A total of 1,365 non-diabetic Chinese subjects from the family study of the Stanford Asia-Pacific ...

journal_title：Human genetics

authors： Chiu YF,Chuang LM,Kao HY,Shih KC,Lin MW,Lee WJ,Quertermous T,Curb JD,Chen I,Rodriguez BL,Hsiung CA

更新日期：2010-11-01 00:00:00

abstract：:Ethyl methanesulfonate induced several times as many sister chromatid exchanges (SCE's) in lymphocytes from individuals affected with Bloom's syndrome as in lymphocytes from controls or heterozygotes. In cultures of cells from an individual with Bloom's syndrome who had two populations of lymphocytes circulating in hi...

journal_title：Human genetics

authors： Krepinsky AB,Heddle JA,German J

更新日期：1979-01-01 00:00:00

abstract：:Developmental and epileptic encephalopathies (DEEs) are genetically heterogenous conditions, often characterized by early onset, EEG interictal epileptiform abnormalities, polymorphous and drug-resistant seizures, and neurodevelopmental impairments. In this study, we investigated the genetic defects in two siblings wh...

journal_title：Human genetics

authors： Fichera M,Failla P,Saccuzzo L,Miceli M,Salvo E,Castiglia L,Galesi O,Grillo L,Calì F,Greco D,Amato C,Romano C,Elia M

更新日期：2019-02-01 00:00:00

abstract：:Three prostate cancer susceptibility genes have been reported to be linked to different regions on chromosome 1: HPC1 at 1q24-25, PCAP at 1q42-43, and CAPB at 1p36. Replication studies analyzing each of these regions have yielded inconsistent results. To evaluate linkage across this chromosome systematically, we perfo...

journal_title：Human genetics

authors： Xu J,Zheng SL,Chang B,Smith JR,Carpten JD,Stine OC,Isaacs SD,Wiley KE,Henning L,Ewing C,Bujnovszky P,Bleeker ER,Walsh PC,Trent JM,Meyers DA,Isaacs WB

更新日期：2001-04-01 00:00:00

abstract：:Prior to the isolation of mammalian DNA repair genes and identification of their gene products, the comparison between the bacterial SOS response and various similar reactions in mammalian cells remains rather speculative. The increasing number of observed phenomena including enhanced DNA repair, virus induction, indu...

journal_title：Human genetics

authors： Herrlich P,Mallick U,Ponta H,Rahmsdorf HJ

更新日期：1984-01-01 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：:We report the molecular characterization of a ring X chromosome that was transmitted from a mother to a male who has short stature and minor dysmorphic features. This represents only the second reported ring X chromosome in a male. The ring is derived from breakage within the Xp pseudoautosomal region (PAR) and just p...

journal_title：Human genetics

authors： Ellison JW,Tekin M,Sikes KS,Yankowitz J,Shapiro L,Rappold GA,Neely KE

更新日期：2002-04-01 00:00:00

abstract：:Using 1.2kb 3'-terminal Pst-I fragment of a full length tissue-type plasminogen activator (t-PA) cDNA clone (ptPA-8FL) and a set of rodent human somatic cell hybrids, the corresponding human gene PLAT was localized on chromosome 8. ...

journal_title：Human genetics

authors： Verheijen JH,Visse R,Wijnen JT,Chang GT,Kluft C,Meera Khan P

更新日期：1986-02-01 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：:A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported. ...

journal_title：Human genetics

authors： Käosaar ME,Mikelsaar AV,Talvik TA,Mikelsaar RV

更新日期：1976-09-10 00:00:00

abstract：:We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion. ...

journal_title：Human genetics

authors： Kuribayashi F,de Boer M,Leusen JH,Verhoeven AJ,Roos D

更新日期：1996-05-01 00:00:00

abstract：:In a large kindred with X-linked Menkes disease, linkage studies were performed with a restriction fragment length polymorphism (RFLP) that had been found with a cloned hybridisation probe from the proximal short arm of the X chromosome. This RFLP was considered as a potential genetic marker since the Menkes gene seem...

journal_title：Human genetics

authors： Wieacker P,Horn N,Pearson P,Wienker TF,McKay E,Ropers HH

更新日期：1983-01-01 00:00:00

abstract：:Cytogenetic analysis of a 20-year-old sterile male revealed a 45,X0 karyotype with no evidence for Y-chromosomal material on any of the chromosomes analysed by Q-, G- and C-banding. DNA analysis with 17 different Y chromosome-derived probes revealed the presence of Yp DNA sequences in the patient's genome. In situ hyb...

journal_title：Human genetics

authors： Arnemann J,Schnittger S,Hinkel GK,Tolkendorf E,Schmidtke J,Hansmann I

更新日期：1991-06-01 00:00:00

abstract：:Cytochrome c oxidase (COX) deficiency causes a variety of neuromuscular and non-neuromuscular disorders in childhood and adulthood and can theoretically undergo either a nuclear or a mitochondrial (mt) mode of inheritance, making genetic counseling in COX deficiency particularly hazardous. In an attempt to determine t...

journal_title：Human genetics

authors： Parfait B,Percheron A,Chretien D,Rustin P,Munnich A,Rötig A

更新日期：1997-12-01 00:00:00

abstract：:The geographical distribution of 49 mtDNA sequences from 22 localities in Southern Tuscany, Italy, was studied by molecular analysis of variance, by a new spatial autocorrelation statistic specifically designed for sequence data and by reconstructing genealogies of haplotypes. All these methods indicated a high homoge...

journal_title：Human genetics

authors： Bertorelle G,Calafell F,Francalacci P,Bertranpetit J,Barbujani G

更新日期：1996-08-01 00:00:00

abstract：:DyeDeoxy terminator cycle sequencing of allele-specific polymerase chain reaction products has shown that there is a highly polymorphic d(AAAAT) pentanucleotide repeat within the first intron of the human p53 gene. This provides a genetic marker for tumor suppressor p53 gene alterations. ...

journal_title：Human genetics

authors： Hahn M,Fislage R,Pingoud A

更新日期：1995-04-01 00:00:00

abstract：:A high prevalence of the lysosomal storage disease aspartylglycosaminuria was found in a study of four birth cohorts of 12882 children in eastern Finland. Using school achievement tests and registers of mentally retarded individuals, 178 mentally retarded children were identified. Randomized urine samples from 151 of ...

journal_title：Human genetics

authors： Mononen T,Mononen I,Matilainen R,Airaksinen E

更新日期：1991-07-01 00:00:00

abstract：:ATP-sensitive K+ (K(ATP)) channels maintain cardiac homeostasis under stress, as revealed by murine gene knockout models of the KCNJ11-encoded Kir6.2 pore. However, the translational significance of K(ATP) channels in human cardiac physiology remains largely unknown. Here, the frequency of the minor K23 allele of the ...

journal_title：Human genetics

authors： Reyes S,Park S,Johnson BD,Terzic A,Olson TM

更新日期：2009-12-01 00:00:00

abstract：:Many recent studies have established that haplotype diversity in a small region may not be greatly diminished when the number of markers is reduced to a smaller set of "haplotype-tagging" single-nucleotide polymorphisms (SNPs) that identify the most common haplotypes. These studies are motivated by the assumption that...

journal_title：Human genetics

authors： Zhang W,Collins A,Morton NE

更新日期：2004-07-01 00:00:00

abstract：:Linkage relationships to unassigned and provisionally assigned genetic markers were examined from 53 families segregating for various fragile sites. Fragile sites were at Xq27, 2q13, 6p23, 9p21, 9p32, 10q23, 10q25, 11q13, 11q23, 12q13 and 16p12. No new assignments were made but extensive exclusion data are presented f...

journal_title：Human genetics

authors： Mulley JC,Nicholls C,Sutherland GR

更新日期：1983-01-01 00:00:00

abstract：:Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance. On the finger tips the Mb. Wilson...

journal_title：Human genetics

authors： Vormittag W,Weninger M,Willvonseder R,Wewalka F

更新日期：1976-02-29 00:00:00

abstract：:Data for 27 cases of retinoblastoma that developed in patients with 13q- were collected from the literature and analyzed. The distribution of unilateral and bilateral cases of retinoblastoma differed significantly from the expectation that the degree of expressivity does not differ between the retinoblastoma gene and ...

journal_title：Human genetics

authors： Matsunaga E

更新日期：1980-01-01 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：:Data on the linkage relation between the GLO locus and the HLA, Bf, and PGM3 loci are presented. The family material includes 49 GLO/HLA-B (and/or Bf) segregating matings with 134 children informative on 199 parental meioses. Of phase-known meioses, 3 are recombinants and 75 nonrecombinants; linkage is therefore prove...

journal_title：Human genetics

authors： Olaisen B,Gedde-Dahl T Jr,Thorsby E

更新日期：1976-06-29 00:00:00

abstract：:The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By...

journal_title：Human genetics

authors： Eiberg H,Troelsen J,Nielsen M,Mikkelsen A,Mengel-From J,Kjaer KW,Hansen L

更新日期：2008-03-01 00:00:00

abstract：:The hyperinsulinism-hyperammonemia syndrome (HHS) has been shown to result from 'gain-of-function' mutations of the glutamate dehydrogenase (GlDH) gene, GLUD1. In the original report, all mutations were found in a narrow range of 27 base pairs within exons 11 and 12 which predicted an effect on the presumed allosteric...

journal_title：Human genetics

authors： Santer R,Kinner M,Passarge M,Superti-Furga A,Mayatepek E,Meissner T,Schneppenheim R,Schaub J

更新日期：2001-01-01 00:00:00

abstract：:An increased frequency of mitoses with centromere separation affecting all chromosomes was found in lymphocyte cultures from a couple with recurrent spontaneous abortions. The phenomenon was observed in both the wife and husband. The abnormal behaviour of centromeres may predispose the individual to cell division erro...

journal_title：Human genetics

authors： Bajnóczky K,Gardó S

更新日期：1993-10-01 00:00:00

abstract：:We have screened fourteen kindreds with X-linked hypophosphataemic rickets with four microsatellite markers, viz AFM163yh2, DXS999 (AFM234yf12), DXS443 and DXS365, in order to refine the genetic map flanking the gene, and to define a close flanking interval for the construction of a yeast artificial chromosome (YAC) a...

journal_title：Human genetics

authors： Rowe PS,Goulding J,Read A,Lehrach H,Francis F,Hanauer A,Oudet C,Biancalana V,Kooh SW,Davies KE

更新日期：1994-03-01 00:00:00