Confirmation of the DRB1-DQB1 loci as the major component of IDDM1 in the isolated founder population of Sardinia.

abstract：:Trinucleotide repeats at five disease loci (DM, DRPLA, HD, SBMA and SCA1) were surveyed in phenotypically normal individuals from three continental populations. This is the first analysis to examine the population dynamics of these five disease-related trinucleotide repeats in the same individuals from worldwide popul...

journal_title：Human molecular genetics

authors： Watkins WS,Bamshad M,Jorde LB

更新日期：1995-09-01 00:00:00

abstract：:The congenital malformation split hand/foot (SHFM) is characterized by missing central fingers and dysmorphology or fusion of the remaining ones. Type-1 SHFM is linked to deletions/rearrangements of the DLX5-DLX6 locus and point mutations in the DLX5 gene. The ectrodactyly phenotype is reproduced in mice by the double...

journal_title：Human molecular genetics

authors： Conte D,Garaffo G,Lo Iacono N,Mantero S,Piccolo S,Cordenonsi M,Perez-Morga D,Orecchia V,Poli V,Merlo GR

更新日期：2016-02-15 00:00:00

abstract：:Juvenile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal storage disease associated with mutations in CLN3. CLN3 has no known homology to other proteins and a function has not yet been described. The predominant mutation in CLN3 is a 1.02 kb genomic deletion that accounts for...

journal_title：Human molecular genetics

authors： Haskell RE,Carr CJ,Pearce DA,Bennett MJ,Davidson BL

更新日期：2000-03-22 00:00:00

abstract：:To examine whether the dosage effect of germ-line mutations in patients with familial adenomatous polyposis (FAP) is sufficient to cause colorectal adenomas, or an additional somatic mutation of the normal allele is required as well, we have investigated somatic mutations of the APC gene in multiple adenomas developed...

journal_title：Human molecular genetics

authors： Ichii S,Horii A,Nakatsuru S,Furuyama J,Utsunomiya J,Nakamura Y

更新日期：1992-09-01 00:00:00

abstract：:In studies of genomic imprinting in the Prader-Willi/Angelman domain, an agouti coat color cassette was inserted into the downstream open reading frame (ORF) of the imprinted bicistronic Snurf-Snrpn locus in the mouse. The fusion gene was maternally silenced, as is Snurf-Snrpn, and produced a tan abdomen only when inh...

journal_title：Human molecular genetics

authors： Tsai TF,Chen KS,Weber JS,Justice MJ,Beaudet AL

更新日期：2002-07-01 00:00:00

abstract：:Successful human development is dependent upon a cascade of events following fertilization. Unfortunately, knowledge of these critical events in humans is remarkably incomplete. Although hundreds of thousands of human embryos are cultured yearly at infertility centers worldwide, the vast majority fail to develop in cu...

journal_title：Human molecular genetics

authors： Dobson AT,Raja R,Abeyta MJ,Taylor T,Shen S,Haqq C,Pera RA

更新日期：2004-07-15 00:00:00

abstract：:Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene and the endothelin B receptor (EDNRB) gene. Hitherto however, homozygosity for EDNRB mutation...

journal_title：Human molecular genetics

authors： Amiel J,Attié T,Jan D,Pelet A,Edery P,Bidaud C,Lacombe D,Tam P,Simeoni J,Flori E,Nihoul-Fékété C,Munnich A,Lyonnet S

更新日期：1996-03-01 00:00:00

abstract：:Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy that results from small expansions of a polyalanine tract in the PABPN1 gene. Intranuclear inclusions are the pathological hallmark of OPMD. The mechanism by which protein aggregation in OPMD might relate to a toxic gain-of...

journal_title：Human molecular genetics

authors： Abu-Baker A,Messaed C,Laganiere J,Gaspar C,Brais B,Rouleau GA

更新日期：2003-10-15 00:00:00

abstract：:The unconventional myosin genes Myo15, Myo6 and Myo7a are essential for hearing in both humans and mice. Despite the expression of each gene in multiple organs, mutations result in identifiable phenotypes only in auditory or ocular sensory organs. The pirouette (pi) mouse also exhibits deafness and an inner ear pathol...

journal_title：Human molecular genetics

authors： Karolyi IJ,Probst FJ,Beyer L,Odeh H,Dootz G,Cha KB,Martin DM,Avraham KB,Kohrman D,Dolan DF,Raphael Y,Camper SA

更新日期：2003-11-01 00:00:00

abstract：:Even though autoimmune diseases are heterogeneous, believed to result from the interaction between genetic and environmental components, patients with these disorders exhibit reproducible patterns of gene expression in their peripheral blood mononuclear cells. A portion of this gene expression profile is a property of...

journal_title：Human molecular genetics

authors： Liu Z,Maas K,Aune TM

更新日期：2006-02-01 00:00:00

abstract：:Slow channel congenital myasthenic syndrome (SCCMS) is a disorder of the neuromuscular synapse caused by dominantly inherited missense mutations in genes that encode the muscle acetylcholine receptor (AChR) subunits. Here we investigate the potential of post-transcriptional gene silencing using RNA interference (RNAi)...

journal_title：Human molecular genetics

authors： Abdelgany A,Wood M,Beeson D

更新日期：2003-10-15 00:00:00

abstract：:Chromosomal common fragile sites (CFSs) are genetically unstable regions of the genome that are induced by conditions that impair DNA replication. In this report, we show that treatment with the DNA polymerase inhibitor, aphidicolin (APH), slows the replication rate throughout S phase. To investigate the unusual sensi...

journal_title：Human molecular genetics

authors： Palakodeti A,Lucas I,Jiang Y,Young DJ,Fernald AA,Karrison T,Le Beau MM

更新日期：2010-01-01 00:00:00

abstract：:Elevated blood pressure (BP) is a major global risk factor for cardiovascular disease. Genome-wide association studies have identified several genetic variants at the NPR3 locus associated with BP, but the functional impact of these variants remains to be determined. Here we confirmed, by a genome-wide association stu...

journal_title：Human molecular genetics

authors： Ren M,Ng FL,Warren HR,Witkowska K,Baron M,Jia Z,Cabrera C,Zhang R,Mifsud B,Munroe PB,Xiao Q,Townsend-Nicholson A,Hobbs AJ,Ye S,Caulfield MJ

更新日期：2018-01-01 00:00:00

abstract：:Employing the mouse homologue of the human choroideremia cDNA as a probe, we have identified a homologous human gene. The consensus cDNA of this gene, designated human choroideremia-like (hCHML) gene, encompasses an open reading frame of 1968 base pairs. The deduced polypeptide of hCHML displays several regions of hom...

journal_title：Human molecular genetics

authors： Cremers FP,Molloy CM,van de Pol DJ,van den Hurk JA,Bach I,Geurts van Kessel AH,Ropers HH

更新日期：1992-05-01 00:00:00

abstract：:Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from ...

journal_title：Human molecular genetics

authors： Spritz RA

更新日期：1994-01-01 00:00:00

abstract：:Supplementation with high doses of folic acid, an important mediator of one-carbon transfers for DNA methylation, is used clinically to improve sperm parameters in infertile men. We recently detected an unexpected loss of DNA methylation in the sperm of idiopathic infertile men after 6 months of daily supplementation ...

journal_title：Human molecular genetics

authors： Aarabi M,Christensen KE,Chan D,Leclerc D,Landry M,Ly L,Rozen R,Trasler J

更新日期：2018-04-01 00:00:00

abstract：:Genome-wide association studies and, more recently, next-generation sequencing studies have accelerated the investigation of complex human traits by providing a wealth of association data linking genetic variants to diseases and other phenotypic traits. These data promise to transform our understanding of the molecula...

journal_title：Human molecular genetics

authors： Peters DT,Musunuru K

更新日期：2012-10-15 00:00:00

abstract：:The clinical manifestations of inherited neurodegenerative diseases are often delayed for periods from years to decades. This observation has led to the idea that, in these disorders, neurons die from cumulative damage. A critical prediction of the cumulative damage hypothesis is that the probability of neuronal death...

journal_title：Human molecular genetics

authors： Clarke G,Lumsden CJ,McInnes RR

更新日期：2001-10-01 00:00:00

abstract：:In the normal diploid mouse embryo, active demethylation of the paternal genome but not of the maternal genome occurs within only a few hours and in a highly coordinated fashion as the zygote proceeds through the first G1 phase. This zygotic demethylation may be necessary to reprogram the sperm genome for somatic deve...

journal_title：Human molecular genetics

authors： Barton SC,Arney KL,Shi W,Niveleau A,Fundele R,Surani MA,Haaf T

更新日期：2001-12-15 00:00:00

abstract：:Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on the long arm of chromosome 13, accounts for approximately 80% of cases in the Mediterranean area. Further...

journal_title：Human molecular genetics

authors： Zelante L,Gasparini P,Estivill X,Melchionda S,D'Agruma L,Govea N,Milá M,Monica MD,Lutfi J,Shohat M,Mansfield E,Delgrosso K,Rappaport E,Surrey S,Fortina P

更新日期：1997-09-01 00:00:00

abstract：:Machado-Joseph disease (MJD) is a fatal, dominant neurodegenerative disorder. MJD results from polyglutamine repeat expansion in the MJD-1 gene, conferring a toxic gain of function to the ataxin-3 protein. In this study, we aimed at overexpressing ataxin-3 in the rat brain using lentiviral vectors (LV), to generate an...

journal_title：Human molecular genetics

authors： Alves S,Régulier E,Nascimento-Ferreira I,Hassig R,Dufour N,Koeppen A,Carvalho AL,Simões S,de Lima MC,Brouillet E,Gould VC,Déglon N,de Almeida LP

更新日期：2008-07-15 00:00:00

abstract：:To assess the relationship between the genotype and phenotype of adult CF patients we have selected from a group of 512 CF patients attending centres in France, all these of greater than 35 years. We have analysed the entire coding sequence of their CFTR genes. The complete genotype was determined in 7 of the 8 patien...

journal_title：Human molecular genetics

authors： Férec C,Verlingue C,Guillermit H,Quéré I,Raguénès O,Feigelson J,Audrézet MP,Moullier P,Mercier B

更新日期：1993-10-01 00:00:00

abstract：BACKGROUND:Single variant approaches have been successful in identifying DNA methylation quantitative trait loci (mQTL), although as with complex traits they lack the statistical power to identify the effects from rare genetic variants. We have undertaken extensive analyses to identify regions of low frequency and rare...

journal_title：Human molecular genetics

authors： Richardson TG,Shihab HA,Hemani G,Zheng J,Hannon E,Mill J,Carnero-Montoro E,Bell JT,Lyttleton O,McArdle WL,Ring SM,Rodriguez S,Campbell C,Smith GD,Relton CL,Timpson NJ,Gaunt TR

更新日期：2016-10-01 00:00:00

abstract：:DNA replication is a critical step for cells because of the propensity of replication forks to stall, as a consequence either of endogenous DNA damage or of the propensity of repeated sequences to form tertiary structures, which can impede fork progression. Moreover, as a result of stalled replication fork processing,...

journal_title：Human molecular genetics

authors： Franchitto A,Pichierri P

更新日期：2002-10-01 00:00:00

abstract：:The polymorphic K variant of the butyrylcholinesterase ( BCHE-K ) gene recently has been demonstrated to have an elevated frequency in Alzheimer's disease (AD) patients carrying the epsilon4 allele of the apolipoprotein (APO E) gene when compared with a control population. We therefore genotyped a large series of path...

journal_title：Human molecular genetics

authors： Singleton AB,Smith G,Gibson AM,Woodward R,Perry RH,Ince PG,Edwardson JA,Morris CM

更新日期：1998-05-01 00:00:00

abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Previous data have shown that MECP2 RNA is present in all mouse and human tissues tested, but the timing of expression and regional distribution have not been explored. We investigated the spatial...

journal_title：Human molecular genetics

authors： Shahbazian MD,Antalffy B,Armstrong DL,Zoghbi HY

更新日期：2002-01-15 00:00:00

abstract：:What would define real progress in the field of deafness research in fundamental and medical terms? In fundamental terms, progress would be measured by an improvement in our knowledge of the development and physiology of the ear. In medical terms, progress would lead to the division of the broad category of hearing de...

journal_title：Human molecular genetics

authors： Kalatzis V,Petit C

更新日期：1998-01-01 00:00:00

abstract：:Deficiency of the mitochondrial matrix protein frataxin causes Friedreich ataxia. Frataxin function is believed to be related to mitochondrial iron metabolism and free radical production. In Friedreich ataxia, loss of dorsal root ganglia neurons occurs early in life, suggesting a developmental process. In addition, fr...

journal_title：Human molecular genetics

authors： Santos MM,Ohshima K,Pandolfo M

更新日期：2001-09-01 00:00:00

abstract：:The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syndromes. A concern regarding the use of these cells for imprinted dise...

journal_title：Human molecular genetics

authors： Pólvora-Brandão D,Joaquim M,Godinho I,Aprile D,Álvaro AR,Onofre I,Raposo AC,Pereira de Almeida L,Duarte ST,da Rocha ST

更新日期：2018-12-01 00:00:00

abstract：:Valosin-containing protein (VCP)-associated disease caused by mutations in the VCP gene includes combinations of a phenotypically heterogeneous group of disorders such as hereditary inclusion body myopathy, Paget's disease of bone, frontotemporal dementia and amyotrophic lateral sclerosis. Currently, there are no effe...

journal_title：Human molecular genetics

authors： Llewellyn KJ,Nalbandian A,Jung KM,Nguyen C,Avanesian A,Mozaffar T,Piomelli D,Kimonis VE

更新日期：2014-03-01 00:00:00