Spin label electron paramagnetic resonance (EPR) studies of Huntington disease erythrocyte membranes.

abstract：:We devised a rapid PCR-based method to screen for an A----G transition at nucleotide 8344 of the human mitochondrial tRNA(Lys) gene, which was recently reported, by Shoffner and co-workers, to be associated with myoclonus epilepsy and ragged-red fibers (MERRF), a maternally transmitted mitochondrial encephalomyopathy ...

journal_title：American journal of human genetics

authors： Zeviani M,Amati P,Bresolin N,Antozzi C,Piccolo G,Toscano A,DiDonato S

更新日期：1991-02-01 00:00:00

abstract：:Catecholamine-induced polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death, in response to physical activity or emotional stress. Two modes of inheritance have been described: autosomal dominant and autosomal recessive. Mutations in the ryanodine receptor 2 gene ...

journal_title：American journal of human genetics

authors： Lahat H,Pras E,Olender T,Avidan N,Ben-Asher E,Man O,Levy-Nissenbaum E,Khoury A,Lorber A,Goldman B,Lancet D,Eldar M

更新日期：2001-12-01 00:00:00

abstract：:A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion m...

journal_title：American journal of human genetics

authors： McDowell GA,Mules EH,Fabacher P,Shapira E,Blitzer MG

更新日期：1992-11-01 00:00:00

abstract：:The chitinase 3-like 1 gene (CHI3L1) is abnormally expressed in the hippocampus of subjects with schizophrenia and may be involved in the cellular response to various environmental events that are reported to increase the risk of schizophrenia. Here, we provide evidence that the functional variants at the CHI3L1 locus...

journal_title：American journal of human genetics

authors： Zhao X,Tang R,Gao B,Shi Y,Zhou J,Guo S,Zhang J,Wang Y,Tang W,Meng J,Li S,Wang H,Ma G,Lin C,Xiao Y,Feng G,Lin Z,Zhu S,Xing Y,Sang H,St Clair D,He L

更新日期：2007-01-01 00:00:00

abstract：:Familial amyotrophic lateral sclerosis (FALS) affects 5%-10% of cases of amyotrophic lateral sclerosis (ALS) and is inherited as an autosomal dominant condition with incomplete penetrance. One-fifth of these cases of FALS are associated with mutations in copper/zinc-dependent superoxide dismutase (SOD1), but the gene ...

journal_title：American journal of human genetics

authors： Abalkhail H,Mitchell J,Habgood J,Orrell R,de Belleroche J

更新日期：2003-08-01 00:00:00

abstract：:Mutation scanning and direct DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1). ABCR variations were identified in 173 (57%) disease chromosomes, the majority of which represent missense amino acid substitutions. These ABCR variants were not found in...

journal_title：American journal of human genetics

authors： Lewis RA,Shroyer NF,Singh N,Allikmets R,Hutchinson A,Li Y,Lupski JR,Leppert M,Dean M

更新日期：1999-02-01 00:00:00

abstract：:We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy. This alteration, located at base pair 6 of the intron 20 donor splice site, is present on >99.5% of FD chromosomes and results in ti...

journal_title：American journal of human genetics

authors： Cuajungco MP,Leyne M,Mull J,Gill SP,Lu W,Zagzag D,Axelrod FB,Maayan C,Gusella JF,Slaugenhaupt SA

更新日期：2003-03-01 00:00:00

abstract：:Beta-Glucosidase activity measured by synthetic substrate at pH 4.6 was low in the cultured amniotic cells from two pregnant women at risk for juvenile and adult type Gaucher disease. The diagnosis was confirmed by showing a low activity of beta-glucosidase in the skin fibroblasts with a synthetic substrate or in the ...

journal_title：American journal of human genetics

authors： Kitagawa T,Owada M,Sakiyama T,Aoki K,Kamoshita S,Amenomori Y,Kobayashi T

更新日期：1978-05-01 00:00:00

abstract：:Knowledge of haplotype phase is valuable for many analysis methods in the study of disease, population, and evolutionary genetics. Considerable research effort has been devoted to the development of statistical and computational methods that infer haplotype phase from genotype data. Although a substantial number of su...

journal_title：American journal of human genetics

authors： Marchini J,Cutler D,Patterson N,Stephens M,Eskin E,Halperin E,Lin S,Qin ZS,Munro HM,Abecasis GR,Donnelly P,International HapMap Consortium.

更新日期：2006-03-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and hypogenitalism. Eight BBS loci have been mapped, and seven genes have been identified. BBS3 was previously mapped to chr...

journal_title：American journal of human genetics

authors： Chiang AP,Nishimura D,Searby C,Elbedour K,Carmi R,Ferguson AL,Secrist J,Braun T,Casavant T,Stone EM,Sheffield VC

更新日期：2004-09-01 00:00:00

abstract：:Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and one of the rare genetic diseases now accessible to therapy. Outside the Ashkenazi Jewish community, a high molecular diversity is observed, leaving approximately 30% of alleles undetected. Nevertheless, very few exhaustive methods have b...

journal_title：American journal of human genetics

authors： Germain DP,Puech JP,Caillaud C,Kahn A,Poenaru L

更新日期：1998-08-01 00:00:00

abstract：:Autism is a heritable but genetically complex disorder characterized by deficits in language and in reciprocal social interactions, combined with repetitive and stereotypic behaviors. As with many genetically complex disorders, numerous genome scans reveal inconsistent results. A genome scan of 345 families from the A...

journal_title：American journal of human genetics

authors： Cantor RM,Kono N,Duvall JA,Alvarez-Retuerto A,Stone JL,Alarcón M,Nelson SF,Geschwind DH

更新日期：2005-06-01 00:00:00

abstract：:Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to ch...

journal_title：American journal of human genetics

authors： Shapira SK,McCaskill C,Northrup H,Spikes AS,Elder FF,Sutton VR,Korenberg JR,Greenberg F,Shaffer LG

更新日期：1997-09-01 00:00:00

abstract：:A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification and sequencing of cDNA from a compound heterozygote, we have det...

journal_title：American journal of human genetics

authors： Ding JH,Yang BZ,Bao Y,Roe CR,Chen YT

更新日期：1992-01-01 00:00:00

abstract：:We explored the biochemical basis for the disorder pseudohypophosphatasia (PsHYPT) in one patient by examining the substrate specificity and localization of alkaline phosphatase (ALP) in cultured dermal fibroblasts. Despite substantial ALP activity, in cell homogenates, toward the artificial substrate 4-methyl-umbelli...

journal_title：American journal of human genetics

authors： Fedde KN,Cole DE,Whyte MP

更新日期：1990-11-01 00:00:00

abstract：:To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was performed on family study data obtained from 53 independently ascertained children and adolescents with TS and their 154 first-degree relatives. The results suggest that the susceptibili...

journal_title：American journal of human genetics

authors： Walkup JT,LaBuda MC,Singer HS,Brown J,Riddle MA,Hurko O

更新日期：1996-09-01 00:00:00

abstract：:A NotI-linking library was constructed from a radiation hybrid containing fragments of human chromosome 16. The clones were mapped on a panel of somatic cell hybrids, and 10 different NotI site-containing clones were localized close to and between genetic markers flanking the PKD1 locus. With pulsed-field gel analysis...

journal_title：American journal of human genetics

authors： Himmelbauer H,Germino GG,Ceccherini I,Romeo G,Reeders ST,Frischauf AM

更新日期：1991-02-01 00:00:00

abstract：:We report here an evaluation of 55 pregnancies at risk for a sickle hemoglobinopathy prenatally diagnosed by restriction-endonuclease analysis, with the endonucleases MstII and HpaI, of amniocyte DNA. The diagnosis was completed in all cases. Eleven fetuses were predicted to be affected, of which six were terminated. ...

journal_title：American journal of human genetics

authors： Driscoll MC,Lerner N,Anyane-Yeboa K,Maidman J,Warburton D,Schaefer-Rego K,Hsu R,Ince C,Malin J,Pallai M

更新日期：1987-06-01 00:00:00

abstract：:The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene (RYR) to the proximal long arm of human chromosome 19. Studies with additional hybrids containing deletions or translocati...

journal_title：American journal of human genetics

authors： MacKenzie AE,Korneluk RG,Zorzato F,Fujii J,Phillips M,Iles D,Wieringa B,Leblond S,Bailly J,Willard HF

更新日期：1990-06-01 00:00:00

abstract：:Phenotypes are rarely consistent across genetic backgrounds and environments, but instead vary in many ways depending on allelic variants, unlinked genes, epigenetic factors, and environmental exposures. In the extreme, individuals carrying the same causal DNA sequence variant but on different backgrounds can be class...

journal_title：American journal of human genetics

authors： Riordan JD,Nadeau JH

更新日期：2017-08-03 00:00:00

abstract：:A high incidence of 46,XX true hermaphroditism exists among southern African blacks. The gonadal distribution and clinical presentation of 38 patients are described. The aim of our study on 11 families with histologically proven XX true hermaphroditism was to determine whether a common genetic or environmental etiolog...

journal_title：American journal of human genetics

authors： Ramsay M,Bernstein R,Zwane E,Page DC,Jenkins T

更新日期：1988-07-01 00:00:00

abstract：:Genetic association studies of common disease often rely on linkage disequilibrium (LD) along the human genome and in the population under study. Although understanding the characteristics of this correlation has been the focus of many large-scale surveys (culminating in genomewide haplotype maps), the results of diff...

journal_title：American journal of human genetics

authors： Pe'er I,Chretien YR,de Bakker PI,Barrett JC,Daly MJ,Altshuler DM

更新日期：2006-04-01 00:00:00

abstract：:Inhibition of replicative DNA synthesis following gamma-irradiation is observed in eukaryotic cells but is defective in cells derived from patients with the cancer-prone inherited disorder ataxia-telangiectasia (A-T) and in A-T-like Chinese hamster cell mutants. Chinese hamster cells show a less pronounced inhibition ...

journal_title：American journal of human genetics

authors： Verhaegh GW,Jongmans W,Jaspers NG,Natarajan AT,Oshimura M,Lohman PH,Zdzienicka MZ

更新日期：1995-11-01 00:00:00

abstract：:The distal portion of the short arm of the human X chromosome (Xp) exhibits many unique and interesting features. Distal Xp contains the pseudoautosomal region, a number of disease loci, and several cell-surface markers. Several genes in this area have also been observed to escape X-chromosomal inactivation. The chara...

journal_title：American journal of human genetics

authors： Johnson CL,Charmley P,Yen PH,Shapiro LJ

更新日期：1991-08-01 00:00:00

abstract：:Cisplatin, a platinating agent commonly used to treat several cancers, is associated with nephrotoxicity, neurotoxicity, and ototoxicity, which has hindered its utility. To gain a better understanding of the genetic variants associated with cisplatin-induced toxicity, we present a stepwise approach integrating genotyp...

journal_title：American journal of human genetics

authors： Huang RS,Duan S,Shukla SJ,Kistner EO,Clark TA,Chen TX,Schweitzer AC,Blume JE,Dolan ME

更新日期：2007-09-01 00:00:00

abstract：:Although quantitative trait locus (QTL) associations have been identified for many molecular traits such as gene expression, it remains challenging to distinguish the causal nucleotide from nearby variants. In addition to traditional QTLs by association, allele-specific (AS) QTLs are a powerful measure of cis-regulati...

journal_title：American journal of human genetics

authors： Wang AT,Shetty A,O'Connor E,Bell C,Pomerantz MM,Freedman ML,Gusev A

更新日期：2020-02-06 00:00:00

abstract：:Common variation in over 100 genes has been implicated in the risk of developing asthma, but the contribution of rare variants to asthma susceptibility remains largely unexplored. We selected nine genes that showed the strongest signatures of weak purifying selection from among 53 candidate asthma-associated genes, an...

journal_title：American journal of human genetics

authors： Torgerson DG,Capurso D,Mathias RA,Graves PE,Hernandez RD,Beaty TH,Bleecker ER,Raby BA,Meyers DA,Barnes KC,Weiss ST,Martinez FD,Nicolae DL,Ober C

更新日期：2012-02-10 00:00:00

abstract：:A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosome...

journal_title：American journal of human genetics

authors： Kremer B,Almqvist E,Theilmann J,Spence N,Telenius H,Goldberg YP,Hayden MR

更新日期：1995-08-01 00:00:00

abstract：:Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes responsible for mul...

journal_title：American journal of human genetics

authors： Kim HG,Kim HT,Leach NT,Lan F,Ullmann R,Silahtaroglu A,Kurth I,Nowka A,Seong IS,Shen Y,Talkowski ME,Ruderfer D,Lee JH,Glotzbach C,Ha K,Kjaergaard S,Levin AV,Romeike BF,Kleefstra T,Bartsch O,Elsea SH,Jabs EW,Mac

更新日期：2012-07-13 00:00:00

abstract：:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstr...

journal_title：American journal of human genetics

authors： Dixon MJ,Read AP,Donnai D,Colley A,Dixon J,Williamson R

更新日期：1991-07-01 00:00:00