Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

abstract：:We have determined the subchromosomal location of the human insulin gene by analyzing DNA isolated from sorted human metaphase chromosomes. Metaphase chromosome suspensions were sorted into fractions according to relative Hoechst fluorescence intensity by the fluorescence activated chromosome sorter. The chromosomal D...

journal_title：Human genetics

authors： Lebo RV,Kan YW,Cheung MC,Carrano AV,Yu LC,Chang JC,Cordell B,Goodman HM

更新日期：1982-01-01 00:00:00

abstract：:The Xq27.3 fragile site was found to be expressed in an XXX woman, who was mentally and physically normal, and in her son who was mentally retarded and showed behavioural and physical features characteristic of the fragile X syndrome. ...

journal_title：Human genetics

authors： Fuster C,Templado C,Miró R,Barrios L,Egozcue J

更新日期：1988-03-01 00:00:00

abstract：:A polymorphism was identified in 3' untranslated region of the phenylalanine hydroxylase gene using the newly described mutation detection method, enzyme mismatch cleavage. This polymorphism, 1546 G-->A, was linked to three mutations on several haplotype backgrounds. A group of haplotypes was identified as evolving fr...

journal_title：Human genetics

authors： Ramus SJ,Cotton RG

更新日期：1995-12-01 00:00:00

abstract：:Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with putative autoimmune aetiology and complex genetic background. Here, we report the results of a genome screen for linkage disequilibrium (LD) by using 6000 microsatellite markers in 198 HLA-DRB1*15-positive MS patients and 198 unrela...

journal_title：Human genetics

authors： Goedde R,Sawcer S,Boehringer S,Miterski B,Sindern E,Haupts M,Schimrigk S,Compston A,Epplen JT

更新日期：2002-09-01 00:00:00

abstract：:Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia. Genotyping for deletions and nine point mutations in the CYP21 gene has been performed in 38 Spanish patients and their relatives by Southern blot analysis and allele-specific oligonucleotide hybridization. Three clinical variants ...

journal_title：Human genetics

authors： Ezquieta B,Oliver A,Gracia R,Gancedo PG

更新日期：1995-08-01 00:00:00

abstract：:Increased levels of retinol binding protein 4 (RBP4) in serum is associated with insulin resistance. To examine this further, the genomic region of RBP4 was genetically surveyed in Mongolian people, who as a group are suffering from a recent rapid increase in diabetes. The RBP4 gene was screened by DHPLC system, and t...

journal_title：Human genetics

authors： Munkhtulga L,Nakayama K,Utsumi N,Yanagisawa Y,Gotoh T,Omi T,Kumada M,Erdenebulgan B,Zolzaya K,Lkhagvasuren T,Iwamoto S

更新日期：2007-02-01 00:00:00

abstract：:It is shown by discontinuous sodium dodecylsulfate (SDS) polyacrylamide gel electrophoresis of human red cell membranes, followed by periodic acid Schiff (PAS) staining and densitometry, that the band PAS-3 (monomeric Ss glycoprotein) exhibits a polymorphism with respect to its staining intensity. In membranes of the ...

journal_title：Human genetics

authors： Dahr W,Uhlenbruck G,Schmalisch R,Janssen E

更新日期：1976-05-19 00:00:00

abstract：:21-hydroxylase (21-OH) deficiency accounts for the vast majority of nonclassic (NC) forms of congenital adrenal hyperplasia (CAH), and is associated with symptoms detectable either in childhood (precocious puberty) or sometimes only later in adulthood (hirsutism, acne, amenorrhea). While the severe forms of the diseas...

journal_title：Human genetics

authors： Blanché H,Vexiau P,Clauin S,Le Gall I,Fiet J,Mornet E,Dausset J,Bellanné-Chantelot C

更新日期：1997-11-01 00:00:00

abstract：:Gene-gene and gene-environment interactions govern a substantial portion of the variation in complex traits and diseases. In convention, a set of either unrelated or family samples are used in detection of such interactions; even when both kinds of data are available, the unrelated and the family samples are analyzed ...

journal_title：Human genetics

authors： Chen GB,Liu N,Klimentidis YC,Zhu X,Zhi D,Wang X,Lou XY

更新日期：2014-02-01 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder caused by homozygous mutations of the SMN1 gene. SMN1 interacts with multiple proteins with functions in snRNP biogenesis, pre-mRNA splicing and presumably neural transport. SMN2, a nearly identical copy of SMN1, produces predominantly exon 7-skipped t...

journal_title：Human genetics

authors： Helmken C,Hofmann Y,Schoenen F,Oprea G,Raschke H,Rudnik-Schöneborn S,Zerres K,Wirth B

更新日期：2003-12-01 00:00:00

abstract：:Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. Inclusion crit...

journal_title：Human genetics

authors： Salomon J,Goulet O,Canioni D,Brousse N,Lemale J,Tounian P,Coulomb A,Marinier E,Hugot JP,Ruemmele F,Dufier JL,Roche O,Bodemer C,Colomb V,Talbotec C,Lacaille F,Campeotto F,Cerf-Bensussan N,Janecke AR,Mueller T,Kolet

更新日期：2014-03-01 00:00:00

abstract：:Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present with growth retarda...

journal_title：Human genetics

authors： Landowski M,O'Donohue MF,Buros C,Ghazvinian R,Montel-Lehry N,Vlachos A,Sieff CA,Newburger PE,Niewiadomska E,Matysiak M,Glader B,Atsidaftos E,Lipton JM,Beggs AH,Gleizes PE,Gazda HT

更新日期：2013-11-01 00:00:00

abstract：:The two human proteins with a VPS10 domain, SorLA and sortilin, both bind neuropeptides. Searching for other VPS10-domain proteins in the database revealed three new putative human neuropeptide receptors. The new receptors were designated SorCS1, SorCS2 and SorCS3, due to their identical domain composition, which, exc...

journal_title：Human genetics

authors： Hampe W,Rezgaoui M,Hermans-Borgmeyer I,Schaller HC

更新日期：2001-06-01 00:00:00

abstract：:Following the application of two-color fluorescence in-situ hybridization (FISH) to human interphase cells, we examined the replication timing of the fragile-X locus relative to the non-transcribed late replicating alpha-satellite region of chromosome-X, a built-in intracellular reference locus. In this assay, an unre...

journal_title：Human genetics

authors： Yeshaya J,Shalgi R,Shohat M,Avivi L

更新日期：1998-01-01 00:00:00

abstract：:Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% in...

journal_title：Human genetics

authors： Ferguson-Smith MA,Aitken DA,Turleau C,de Grouchy J

更新日期：1976-09-10 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is a common inherited disease affecting one in 3,500 individuals. The mutation rate in the NF1 gene is one of the highest known for human genes. Compared to other methods, the protein truncation test (PTT) and subsequent sequence analysis of cloned cDNA provides improved efficiency in de...

journal_title：Human genetics

authors： Wimmer K,Eckart M,Rehder H,Fonatsch C

更新日期：2000-03-01 00:00:00

abstract：:Susceptibility to viral bronchiolitis, the commonest cause of infant admissions to hospital in the industrialised world, is associated with polymorphism at the IL8 locus. Here we map the genomic boundaries of the disease association by case-control analysis and TDT in 580 affected UK infants. Markers for association m...

journal_title：Human genetics

authors： Hull J,Rowlands K,Lockhart E,Sharland M,Moore C,Hanchard N,Kwiatkowski DP

更新日期：2004-02-01 00:00:00

abstract：:Our recent genome-wide association study (GWAS) had discovered a new locus at 8p23 (rs2738048) associated with IgA nephropathy (IgAN) in Chinese Han patients, implicating the DEFA gene family within this locus as susceptibility genes. However, it is still unknown whether there are additional variations within these ge...

journal_title：Human genetics

authors： Xu R,Feng S,Li Z,Fu Y,Yin P,Ai Z,Liu W,Yu X,Li M

更新日期：2014-10-01 00:00:00

abstract：:Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations without other ocular deficits. To date, mutations in only one gene have been identified to be responsible for CMN, i.e., FRMD7 for X-linked CMN. Four loci for autosomal dominant CMN, including NYS7 (OMIM 614826), have been m...

journal_title：Human genetics

authors： Sun W,Li S,Jia X,Wang P,Hejtmancik JF,Xiao X,Zhang Q

更新日期：2020-08-01 00:00:00

abstract：:Recombinant DNA methodology has greatly increased our knowledge of the molecular pathology of the human genome at the same time as providing the means of diagnosing inherited disease at the DNA level. Direct detection and analysis of a wide range of genetic lesions are now possible using cloned gene or oligonucleotide...

journal_title：Human genetics

authors： Cooper DN,Schmidtke J

更新日期：1993-10-01 00:00:00

abstract：:Angelman syndrome (AS) is a rare neurodevelopmental disorder. Recently, several mutations have been found in the E6-AP ubiquitin protein ligase gene (UBE3A) in a group of patients who are nondeleted and do not have uniparental disomy or imprinting defects. Most of the reported mutations cluster within exons 9 or 16 of...

journal_title：Human genetics

authors： Fung DC,Yu B,Cheong KF,Smith A,Trent RJ

更新日期：1998-04-01 00:00:00

abstract：:Stargardt disease (STGD) is one of the most frequent causes of macular degeneration in childhood. Linkage analysis in families with recessive STGD has recently shown genetic homogeneity and a location of the underlying gene at 1p22-p21 in a 4-cM interval. Haplotype analysis in seven Dutch STGD families with 11 highly ...

journal_title：Human genetics

authors： Hoyng CB,Poppelaars F,van de Pol TJ,Kremer H,Pinckers AJ,Deutman AF,Cremers FP

更新日期：1996-10-01 00:00:00

abstract：:The imprinted domain on human chromosome 15 consists of two oppositely imprinted gene clusters, which are under the control of an imprinting center (IC). The paternally expressed SNURF-SNRPN gene hosts several snoRNA genes and overlaps the UBE3A gene, which is encoded on the opposite strand, expressed - at least in br...

journal_title：Human genetics

authors： Runte M,Kroisel PM,Gillessen-Kaesbach G,Varon R,Horn D,Cohen MY,Wagstaff J,Horsthemke B,Buiting K

更新日期：2004-05-01 00:00:00

abstract：:High resolution cytogenetics, microsatellite marker analyses, and fluorescence in situ hybridization were used to define Xq deletions encompassing the fragile X gene, FMR1, detected in individuals from two unrelated families. In Family 1, a 19-year-old male had facial features consistent with fragile X syndrome; howev...

journal_title：Human genetics

authors： Wolff DJ,Gustashaw KM,Zurcher V,Ko L,White W,Weiss L,Van Dyke DL,Schwartz S,Willard HF

更新日期：1997-08-01 00:00:00

abstract：:Reverse transcription-polymerase chain reaction (RT-PCR)-based analyses of the adenomatous polyposis coli (APC) gene encompassing exons 1-15 revealed a complex pattern of products that were due to alternative splicing of exons 9, 10A and 14. The multiplicity of polypeptide chains obtained from T7-promoter-directed in ...

journal_title：Human genetics

authors： Bala S,Kraus C,Wijnen J,Meera Khan P,Ballhausen WG

更新日期：1996-11-01 00:00:00

abstract：:Variability in the susceptibility to infectious disease and its clinical manifestation can be determined by variation in the environment and by genetic variation in the pathogen and the host. Despite several successes based on candidate gene studies, defining the host variation affecting infectious disease has not bee...

journal_title：Human genetics

authors： Hollox EJ,Hoh BP

更新日期：2014-10-01 00:00:00

abstract：:We describe a new polymorphism upstream of the gene for monoamine oxidase A (MAOA), an important enzyme in human physiology and behavior. The polymorphism, which is located 1.2 kb upstream of the MAOA coding sequences, consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism is in link...

journal_title：Human genetics

authors： Sabol SZ,Hu S,Hamer D

更新日期：1998-09-01 00:00:00

abstract：:From a series of 53 patients with ataxia telangiectasia, two large clones with a t tan or tct(14;14) and two with an inv(14) were observed among phytohaemagglutinin (PHA)-stimulated lymphocytes. Smaller clones with the same inv(14) were observed in two other cases. Similar breakpoints may exist, both for t(14;14) and ...

journal_title：Human genetics

authors： Aurias A,Croquette MF,Nuyts JP,Griscelli C,Dutrillaux B

更新日期：1986-01-01 00:00:00

abstract：:Field inversion gel electrophoresis (FIGE) of SfiI-digested chromosomal DNA was used to demonstrate a 50-kb deletion in one allele of the gene encoding the beta subunit of human hexosaminidase (HEXB at 5q13) of two apparently unrelated patients with Sandhoff disease. In conventional electrophoretic restriction analysi...

journal_title：Human genetics

authors： Bikker H,van den Berg FM,Wolterman RA,de Vijlder JJ,Bolhuis PA

更新日期：1989-02-01 00:00:00

abstract：:The size and position of the heterochromatic regions of chromosome 9 were examined in a group of women with histories of recurrent miscarriage and a control group of fertile women. Measurements were made on whole chromosomes (variability between chromosomes was taken to reflect differences in heterochromatin), and cor...

journal_title：Human genetics

authors： Ford JH,Callen DF,Jahnke AB,Roberts CG

更新日期：1982-01-01 00:00:00