当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.

A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.

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 defect in the remaining 80% of familial cases is, as yet, unknown. We have carried out a preliminary genome screen, using a U.K. resource of families lacking SOD1 mutations, to identify other potential disease loci and have identified a putative locus on chromosome 16q12.1-q12.2. The region associated with disease was further refined in the major family that contributed to this result and was localized to D16S409-D16S3032, a 14.74-cM genetic interval that corresponds to a physical distance of 6.6 Mb, which coincides with a region independently identified by two further research groups in the United States and the United Kingdom.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

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

doi

10.1086/377156

subject

Has Abstract

pub_date

2003-08-01 00:00:00

pages

383-9

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)61926-0

journal_volume

73

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

    abstract：:Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas. Cerebellar medulloblastoma has been described in a single af...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.04.007

    authors： Twigg SRF,Hufnagel RB,Miller KA,Zhou Y,McGowan SJ,Taylor J,Craft J,Taylor JC,Santoro SL,Huang T,Hopkin RJ,Brady AF,Clayton-Smith J,Clericuzio CL,Grange DK,Groesser L,Hafner C,Horn D,Temple IK,Dobyns WB,Curry CJ,

    更新日期：2016-06-02 00:00:00

  • Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts.

    abstract：:The first component of the mitochondrial electron-transport chain is especially complex, consisting of 19 nuclear and seven mitochondrion-encoded subunits. Accordingly, a wide range of clinical manifestations are produced by the various mutations occurring in human populations. In this study, we analyze the subunit st...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Slipetz DM,Goodyer PR,Rozen R

    更新日期：1991-06-01 00:00:00

  • Interethnic genetic differentiation in Africa: HLA class I antigens in The Gambia.

    abstract：:A total of 752 individuals from The Gambia, west Africa who are representative of the major ethnic groups in the capital, Banjul, were serologically typed for HLA-A, -B, and -C antigens. Although all were typically "African" in their antigenic profiles, some marked frequency differences were found between the ethnic g...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Allsopp CE,Harding RM,Taylor C,Bunce M,Kwiatkowski D,Anstey N,Brewster D,McMichael AJ,Greenwood BM,Hill AV

    更新日期：1992-02-01 00:00:00

  • Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis.

    abstract：:The extent to which variants in the protein-coding sequence of genes contribute to risk of rheumatoid arthritis (RA) is unknown. In this study, we addressed this issue by deep exon sequencing and large-scale genotyping of 25 biological candidate genes located within RA risk loci discovered by genome-wide association s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.11.012

    authors： Diogo D,Kurreeman F,Stahl EA,Liao KP,Gupta N,Greenberg JD,Rivas MA,Hickey B,Flannick J,Thomson B,Guiducci C,Ripke S,Adzhubey I,Barton A,Kremer JM,Alfredsson L,Consortium of Rheumatology Researchers of North America.,Rhe

    更新日期：2013-01-10 00:00:00

  • NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

    abstract：:The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP)...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/378817

    authors： Rainier S,Chai JH,Tokarz D,Nicholls RD,Fink JK

    更新日期：2003-10-01 00:00:00

  • Structure and Barr body formation of an Xp + chromosome with two inactivation centers.

    abstract：:A patients with seizures, Von Willebrand disease, and symptoms of Turner syndrome was a chromosomal mosaic. In blood culture (1974), 56% of the cells were 45, X 33% 46, XXp+ and 11% 47,XXp + Xp +; in the skin, no cells with 47 chromosomes were found. Presumably the Xp + chromosome arose through a break in the Q-banded...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Daly RF,Patau K,Therman E,Sarto GE

    更新日期：1977-01-01 00:00:00

  • Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

    abstract：:Otopalatodigital syndrome type 1 (OPD1) is an X-linked semidominant condition characterized by malformations of the skeleton, auditory apparatus, and palate. Previous studies have established linkage to a 16-cM region of Xq27-q28. A proposed allelic variant of OPD1, termed "OPD2," is associated with a more severe, fre...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/321280

    authors： Robertson SP,Walsh S,Oldridge M,Gunn T,Becroft D,Wilkie AO

    更新日期：2001-07-01 00:00:00

  • Tests for linkage and association in nuclear families.

    abstract：:The transmission/disequilibrium test (TDT) originally was introduced to test for linkage between a genetic marker and a disease-susceptibility locus, in the presence of association. Recently, the TDT has been used to test for association in the presence of linkage. The motivation for this is that linkage analysis typi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/514860

    authors： Martin ER,Kaplan NL,Weir BS

    更新日期：1997-08-01 00:00:00

  • Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

    abstract：:The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous rel...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Taschner PE,de Vos N,Thompson AD,Callen DF,Doggett N,Mole SE,Dooley TP,Barth PG,Breuning MH

    更新日期：1995-03-01 00:00:00

  • Mapping of Alport syndrome to the long arm of the X chromosome.

    abstract：:Five X-chromosome DNA markers were typed on 261 members of three large kindreds with Alport syndrome (hereditary glomerulonephritis). Lod scores greater than 3.0 for linkage between the disease locus and two of the markers confirmed X-linked inheritance of the disease. A decreasing gradient in the estimated recombinat...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Atkin CL,Hasstedt SJ,Menlove L,Cannon L,Kirschner N,Schwartz C,Nguyen K,Skolnick M

    更新日期：1988-02-01 00:00:00

  • Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity.

    abstract：:Although Africa has played a central role in human evolutionary history, certain studies have suggested that not all contemporary human genetic diversity is of recent African origin. We investigated 35 simple polymorphic sites and one T(n) microsatellite in an 8-kb segment of the dystrophin gene. We found 86 haplotype...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/378777

    authors： Zietkiewicz E,Yotova V,Gehl D,Wambach T,Arrieta I,Batzer M,Cole DE,Hechtman P,Kaplan F,Modiano D,Moisan JP,Michalski R,Labuda D

    更新日期：2003-11-01 00:00:00

  • Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.

    abstract：:The Friedreich ataxia (FA) mutation has recently been identified as an unstable trinucleotide GAA repeat present 7-22 times in the normal population but amplified as many as > 1,000 times in FA. Since it is an autosomal recessive disease, FA does not show typical features observed in other dynamic mutation disorders, ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/513887

    authors： Monrós E,Moltó MD,Martínez F,Cañizares J,Blanca J,Vílchez JJ,Prieto F,de Frutos R,Palau F

    更新日期：1997-07-01 00:00:00

  • A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

    abstract：:Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in a large consanguineous family with HPS. Affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. Ski...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/499338

    authors： Morgan NV,Pasha S,Johnson CA,Ainsworth JR,Eady RA,Dawood B,McKeown C,Trembath RC,Wilde J,Watson SP,Maher ER

    更新日期：2006-01-01 00:00:00

  • Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

    abstract：:The original test for the analysis of the CCG expansion at the FRAXE locus involves Southern blot analysis of HindIII digests. We show that, by using a different probe, the FRAXE mutation can be detected easily on the same EcoRI or EagI+EcoRI blots as are used for detection of FRAXA. Unexpectedly, we found that both t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Biancalana V,Taine L,Bouix JC,Finck S,Chauvin A,De Verneuil H,Knight SJ,Stoll C,Lacombe D,Mandel JL

    更新日期：1996-10-01 00:00:00

  • Genetic heterogeneity of insulin-dependent (type I) diabetes mellitus: evidence from a study of extended haplotypes.

    abstract：:Two hundred subjects with insulin-dependent (type I) diabetes mellitus (IDDM) were typed for HLA-B, HLA-DR, and properdin factor B (Bf). HLA and Bf antigen and haplotype frequencies in subjects were compared with control frequencies derived from the 8th HLA Workshop. Frequencies of extended haplotypes (defined by B-Bf...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rich SS,Weitkamp LR,Barbosa J

    更新日期：1984-09-01 00:00:00

  • The first arrival time and mean age of a deleterious mutant gene in a finite population.

    abstract：:The mean and standard deviation of the first arrival time for a single mutant to reach a certain frequency and the mean age of a mutant persisting in a population have been studied using diffusion methods. These quantities are shown to be highly dependent on both the heterozygous effect and the population size. For pa...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Li WH

    更新日期：1975-05-01 00:00:00

  • Genetic studies of human apolipoproteins. XX. Genetic polymorphism of apolipoprotein J and its impact on quantitative lipid traits in normolipidemic subjects.

    abstract：:Apolipoprotein J (apo J) is a newly identified member of a growing family of proteins associated with various lipoprotein particles. Apo J is a glycoprotein which exists in the plasma associated with high-density lipoprotein subfractions which also contain apo A-I and cholesteryl ester transfer protein (CETP). We have...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kamboh MI,Harmony JA,Sepehrnia B,Nwankwo M,Ferrell RE

    更新日期：1991-12-01 00:00:00

  • Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome.

    abstract：:A black family with two male infants affected with the X-linked Lowe syndrome was studied. All three females in the pedigree were found to be carriers on the basis of lenticular opacities. Each female had one son. Of these, two were affected and one was unaffected. The Xg blood-group locus and the G6PD locus were dete...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hittner HM,Carroll AJ,Prchal JT

    更新日期：1982-11-01 00:00:00

  • Allele frequency distribution of two highly polymorphic DNA sequences in three ethnic groups and its application to the determination of paternity.

    abstract：:The allele frequency distribution of two highly polymorphic DNA sequences has been determined in three ethnic groups (American blacks, Caucasoids, and Hispanics) from the New York metropolitan area. The two loci examined were D14S1 and the flanking region of HRAS-1. The former was analyzed in EcoRI-digested DNA and th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Baird M,Balazs I,Giusti A,Miyazaki L,Nicholas L,Wexler K,Kanter E,Glassberg J,Allen F,Rubinstein P

    更新日期：1986-10-01 00:00:00

  • Inferring genetic ancestry: opportunities, challenges, and implications.

    abstract：:Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.03.011

    authors： Royal CD,Novembre J,Fullerton SM,Goldstein DB,Long JC,Bamshad MJ,Clark AG

    更新日期：2010-05-14 00:00:00

  • Huntington disease phenocopy is a familial prion disease.

    abstract：:Huntington disease (HD) is a common autosomal dominant neurodegenerative disease with early adult-onset motor abnormalities and dementia. Many studies of HD show that huntingtin (CAG)n repeat-expansion length is a sensitive and specific marker for HD. However, there are a significant number of examples of HD in the ab...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/324414

    authors： Moore RC,Xiang F,Monaghan J,Han D,Zhang Z,Edström L,Anvret M,Prusiner SB

    更新日期：2001-12-01 00:00:00

  • Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.

    abstract：:Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. It is characterized by collodion babies at birth, dramatically increased transepidermal water loss (TEWL), and lifelong pronounced scaling. The disease has a tremen...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.08.003

    authors： Aufenvenne K,Larcher F,Hausser I,Duarte B,Oji V,Nikolenko H,Del Rio M,Dathe M,Traupe H

    更新日期：2013-10-03 00:00:00

  • From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.

    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

    pub_type： 杂志文章,评审

    doi：10.1016/j.ajhg.2017.06.004

    authors： Riordan JD,Nadeau JH

    更新日期：2017-08-03 00:00:00

  • Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19.

    abstract：:Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants. Finding genes that cause defects in human limb patterning should be straightforward but has been limited, in part, by the bewildering spectrum of phenotypes, which are difficult to separate int...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301687

    authors： O'Quinn JR,Hennekam RC,Jorde LB,Bamshad M

    更新日期：1998-01-01 00:00:00

  • Nonsyndromic cleft lip with or without cleft palate in west Bengal, India: evidence for an autosomal major locus.

    abstract：:Ninety extended families having one or more individuals affected with nonsyndromic cleft lip (CL) with or without cleft palate (CL/P) were ascertained in rural West Bengal, India. These families included 138 affected people, 64% of whom had CL alone and 66% of whom were male. Multiple-affected-member ("multiplex") ped...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ray AK,Field LL,Marazita ML

    更新日期：1993-05-01 00:00:00

  • Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

    abstract：:Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.05.001

    authors： Panagiotou ES,Sanjurjo Soriano C,Poulter JA,Lord EC,Dzulova D,Kondo H,Hiyoshi A,Chung BH,Chu YW,Lai CHY,Tafoya ME,Karjosukarso D,Collin RWJ,Topping J,Downey LM,Ali M,Inglehearn CF,Toomes C

    更新日期：2017-06-01 00:00:00

  • A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci.

    abstract：:Generalized vitiligo is a common autoimmune disorder characterized by the development of white patches of skin and overlying hair due to loss of pigment-forming melanocytes from the involved areas. Family clustering of cases is not uncommon, in a pattern suggestive of multifactorial, polygenic inheritance, and there i...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/375451

    authors： Fain PR,Gowan K,LaBerge GS,Alkhateeb A,Stetler GL,Talbert J,Bennett DC,Spritz RA

    更新日期：2003-06-01 00:00:00

  • Genetic polymorphism of the A subunit of human coagulation factor XIII.

    abstract：:Utilizing a fluorescent technique for the localization of transglutaminase activity after electrophoresis on thin layer agarose gels, we observed a new polymorphism of coagulation factor XIII in both platelets and plasma. The electrophoretic pattern was that of a dimeric protein. Homozygotes gave a single band, while ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Board PG

    更新日期：1979-03-01 00:00:00

  • De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

    abstract：:SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.04.015

    authors： Tolchin D,Yeager JP,Prasad P,Dorrani N,Russi AS,Martinez-Agosto JA,Haseeb A,Angelozzi M,Santen GWE,Ruivenkamp C,Mercimek-Andrews S,Depienne C,Kuechler A,Mikat B,Ludecke HJ,Bilan F,Le Guyader G,Gilbert-Dussardier B,Ker

    更新日期：2020-06-04 00:00:00

  • The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

    abstract：:Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system. South African ty-pos OCA individuals occur with two distinct phenotypes, with or without darkly pigmented patches (ephelides, or dendritic freckles) on exposed areas of the skin. These phenotyp...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kedda MA,Stevens G,Manga P,Viljoen C,Jenkins T,Ramsay M

    更新日期：1994-06-01 00:00:00