Ataxia-telangiectasia: founder effect among north African Jews.

abstract：:Primary open-angle glaucoma (POAG) is a genetically complex neuropathy that affects retinal ganglion cells and is a leading cause of blindness worldwide. WDR36, a gene of unknown function, was recently identified as causative for POAG at locus GLC1G. Subsequent studies found disease-associated variants in control popu...

journal_title：Human molecular genetics

authors： Skarie JM,Link BA

更新日期：2008-08-15 00:00:00

abstract：:Linkage analysis of type 1 diabetes sib pair families (n = 334) has suggested two separate regions of human chromosome 6q are linked to disease (designated IDDM5 and IDDM8). To test if these are false positive results, all available sib pair families (n = 429) were typed using a 92% informative map of chromosome 6q an...

journal_title：Human molecular genetics

authors： Davies JL,Cucca F,Goy JV,Atta ZA,Merriman ME,Wilson A,Barnett AH,Bain SC,Todd JA

更新日期：1996-07-01 00:00:00

abstract：:The AFF (AF4/FMR2) family of genes includes four members: AFF1/AF4, AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31. AFF2/FMR2 is silenced in FRAXE intellectual disability, while the other three members have been reported to form fusion genes as a consequence of chromosome translocations with the myeloid/lymphoid or mixed lineag...

journal_title：Human molecular genetics

authors： Melko M,Douguet D,Bensaid M,Zongaro S,Verheggen C,Gecz J,Bardoni B

更新日期：2011-05-15 00:00:00

abstract：:Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair and also associated with various systemic symptoms. Approximately half of TTD patients exhibit photosensitivity, resulting from the defect in the nucleotide excision repair. Photosensitive TTD is due to mutations in three ge...

journal_title：Human molecular genetics

authors： Hashimoto S,Egly JM

更新日期：2009-10-15 00:00:00

abstract：:Polyglutamine expansions in the huntingtin gene cause Huntington's disease (HD). Huntingtin is ubiquitously expressed, leading to pathological alterations also in peripheral organs. Variations in the length of the polyglutamine tract explain up to 70% of the age-at-onset variance, with the rest of the variance attribu...

journal_title：Human molecular genetics

authors： Corrochano S,Blanco G,Williams D,Wettstein J,Simon M,Kumar S,Moir L,Agnew T,Stewart M,Landman A,Kotiadis VN,Duchen MR,Wackerhage H,Rubinsztein DC,Brown SDM,Acevedo-Arozena A

更新日期：2018-05-15 00:00:00

abstract：:Cardiac hypertrophy, an adaptive process that responds to increased wall stress, is characterized by the enlargement of cardiomyocytes and structural remodeling. It is stimulated by various growth signals, of which the mTORC1 pathway is a well-recognized source. Here, we show that loss of Flcn, a novel AMPK-mTOR inter...

journal_title：Human molecular genetics

authors： Hasumi Y,Baba M,Hasumi H,Huang Y,Lang M,Reindorf R,Oh HB,Sciarretta S,Nagashima K,Haines DC,Schneider MD,Adelstein RS,Schmidt LS,Sadoshima J,Marston Linehan W

更新日期：2014-11-01 00:00:00

abstract：:Glaucoma is the leading cause of irreversible blindness worldwide. Although most glaucoma patients are elderly, congenital glaucoma and glaucomas of childhood are also important causes of visual disability. Primary congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years of li...

journal_title：Human molecular genetics

authors： Lewis CJ,Hedberg-Buenz A,DeLuca AP,Stone EM,Alward WLM,Fingert JH

更新日期：2017-08-01 00:00:00

abstract：:The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization of the calvarium, shorten...

journal_title：Human molecular genetics

authors： Zhang W,Taylor SP,Nevarez L,Lachman RS,Nickerson DA,Bamshad M,University of Washington Center for Mendelian Genomics Consortium.,Krakow D,Cohn DH

更新日期：2016-09-15 00:00:00

abstract：:Although studies over the last decades have firmly connected a number of genes and molecular pathways to aging, the aging process as a whole still remains poorly understood. To gain novel insights into the mechanisms underlying aging, instead of considering aging genes individually, we studied their characteristics at...

journal_title：Human molecular genetics

authors： Zhang Q,Nogales-Cadenas R,Lin JR,Zhang W,Cai Y,Vijg J,Zhang ZD

更新日期：2016-07-15 00:00:00

abstract：:alpha2-Macroglobulin (A2M) is a proteinase inhibitor found in association with senile plaques (SP) in Alzheimer's disease (AD). A2M has been implicated biochemically in binding and degradation of the amyloid beta (Abeta) protein which accumulates in SP. We studied the relationship between Alzheimer's disease and a com...

journal_title：Human molecular genetics

authors： Liao A,Nitsch RM,Greenberg SM,Finckh U,Blacker D,Albert M,Rebeck GW,Gomez-Isla T,Clatworthy A,Binetti G,Hock C,Mueller-Thomsen T,Mann U,Zuchowski K,Beisiegel U,Staehelin H,Growdon JH,Tanzi RE,Hyman BT

更新日期：1998-11-01 00:00:00

abstract：:'Pure' familial spastic paraplegias (FSP) are neurodegenerative disorders that are clinically characterized by progressive spasticity of the lower limbs and are inherited as autosomal dominant (DFSP) or autosomal recessive (RFSP) traits. The primary defect in FSP is unknown. Genetic linkage analysis was applied to fiv...

journal_title：Human molecular genetics

authors： Hentati A,Pericak-Vance MA,Hung WY,Belal S,Laing N,Boustany RM,Hentati F,Ben Hamida M,Siddique T

更新日期：1994-08-01 00:00:00

abstract：:Abdominal aortic aneurysm (AAA) is a major cause of sudden death in the elderly. While AAA has some overlapping genetic and environmental risk factors with atherosclerosis, there are substantial differences, and AAA-specific medication is lacking. A recent meta-analysis of genome-wide association studies has identifie...

journal_title：Human molecular genetics

authors： Marsman J,Gimenez G,Day RC,Horsfield JA,Jones GT

更新日期：2020-03-13 00:00:00

abstract：:Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using ...

journal_title：Human molecular genetics

authors： Steinberg S,de Jong S,Irish Schizophrenia Genomics Consortium.,Andreassen OA,Werge T,Børglum AD,Mors O,Mortensen PB,Gustafsson O,Costas J,Pietiläinen OP,Demontis D,Papiol S,Huttenlocher J,Mattheisen M,Breuer R,Vassos E,

更新日期：2011-10-15 00:00:00

abstract：:Huntington's disease is caused by an expanded polyglutamine tract in huntingtin protein, leading to accumulation of huntingtin in the nuclei of striatal neurons. The 18 amino-acid amino-terminus of huntingtin is an amphipathic alpha helical membrane-binding domain that can reversibly target to vesicles and the endopla...

journal_title：Human molecular genetics

authors： Atwal RS,Xia J,Pinchev D,Taylor J,Epand RM,Truant R

更新日期：2007-11-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a fundamental question of ...

journal_title：Human molecular genetics

authors： Motyl AAL,Faller KME,Groen EJN,Kline RA,Eaton SL,Ledahawsky LM,Chaytow H,Lamont DJ,Wishart TM,Huang YT,Gillingwater TH

更新日期：2020-09-29 00:00:00

abstract：:Gene amplification is a common phenomenon in malignant neoplasms of all types. One mechanism behind increased gene copy number is the formation of ring chromosomes. Such structures are mitotically unstable and during tumor progression they accumulate material from many different parts of the genome. Hence, their conte...

journal_title：Human molecular genetics

authors： Nord KH,Macchia G,Tayebwa J,Nilsson J,Vult von Steyern F,Brosjö O,Mandahl N,Mertens F

更新日期：2014-02-15 00:00:00

abstract：:A mutation in exon 4 of the human alpha-synuclein gene was reported recently in four families with autosomal dominant Parkinson's disease (PD). In order to examine whether mutations in this exon or elsewhere in the gene are common in familial PD, all seven exons of the alpha-synuclein gene were amplified by PCR from i...

journal_title：Human molecular genetics

authors： Vaughan JR,Farrer MJ,Wszolek ZK,Gasser T,Durr A,Agid Y,Bonifati V,DeMichele G,Volpe G,Lincoln S,Breteler M,Meco G,Brice A,Marsden CD,Hardy J,Wood NW

更新日期：1998-04-01 00:00:00

abstract：:Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). The diagnostic hallmark of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heterogeneous, with variab...

journal_title：Human molecular genetics

authors： Orhan Akman H,Emmanuele V,Kurt YG,Kurt B,Sheiko T,DiMauro S,Craigen WJ

更新日期：2015-12-01 00:00:00

abstract：:Pathological modifications in the microtubule-associated protein Tau is a common characteristic observed in different neurological diseases, suggesting that analogous metabolic pathways might be similarly affected during neurodegeneration. To identify these molecules and mechanisms, we utilized Drosophila models of hu...

journal_title：Human molecular genetics

authors： Appocher C,Klima R,Feiguin F

更新日期：2014-12-20 00:00:00

abstract：:Bitter taste perception is initiated by TAS2R receptors, which respond to agonists by triggering depolarization of taste bud cells. Mutations in TAS2Rs are known to affect taste phenotypes by altering receptor function. Evidence that TAS2Rs overlap in ligand specificity suggests that they may also contribute joint eff...

journal_title：Human molecular genetics

authors： Roudnitzky N,Bufe B,Thalmann S,Kuhn C,Gunn HC,Xing C,Crider BP,Behrens M,Meyerhof W,Wooding SP

更新日期：2011-09-01 00:00:00

abstract：:Human leukocyte antigen (HLA)-E is a non-classical major histocompatibility complex class I (Ib) molecule, which plays an important role in immunosuppression. In this study, we investigated the immunomodulating effect of HLA-E in a xenogeneic system, using human placental artery-derived endothelial (hPAE) cells expres...

journal_title：Human molecular genetics

authors： Cui CH,Miyoshi S,Tsuji H,Makino H,Kanzaki S,Kami D,Terai M,Suzuki H,Umezawa A

更新日期：2011-01-15 00:00:00

abstract：:There has been substantial progress in psychiatric genetics in recent years, through collaborative efforts to build large samples sizes for case/control analyses for a number of psychiatric disorders. The identification of replicated trait-associated genomic loci represents a large stride forward in a field where litt...

journal_title：Human molecular genetics

authors： Hodgson K,McGuffin P,Lewis CM

更新日期：2017-10-01 00:00:00

abstract：:The maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-gamma (pol-gamma), encoded by the nuclear gene POLG. Over the last 5 years, it has become clear that mutations of POLG are a major cause of human disease. Secondary mtDNA defects characterize these disorders, with mtDNA depletion, mul...

journal_title：Human molecular genetics

authors： Hudson G,Chinnery PF

更新日期：2006-10-15 00:00:00

abstract：:To investigate the putative role of BRCA1, a gene involved in hereditary breast and ovarian cancer, in sporadic ovarian tumors among Japanese women, we examined 76 unselected primary ovarian cancers for mutations in the coding region of BRCA1 using the single-strand conformation polymorphism technique. Although no som...

journal_title：Human molecular genetics

authors： Matsushima M,Kobayashi K,Emi M,Saito H,Saito J,Suzumori K,Nakamura Y

更新日期：1995-10-01 00:00:00

abstract：:Lipid traits (total, low-density and high-density lipoprotein cholesterol, and triglycerides) are risk factors for cardiovascular disease. DNA methylation is not only an inherited but also modifiable epigenetic mark that has been related to cardiovascular risk factors. Our aim was to identify loci showing differential...

journal_title：Human molecular genetics

authors： Sayols-Baixeras S,Subirana I,Lluis-Ganella C,Civeira F,Roquer J,Do AN,Absher D,Cenarro A,Muñoz D,Soriano-Tárraga C,Jiménez-Conde J,Ordovas JM,Senti M,Aslibekyan S,Marrugat J,Arnett DK,Elosua R

更新日期：2016-10-15 00:00:00

abstract：:Lysosomal neuraminidase (sialidase) occurs in a high molecular weight complex with the glycosidase beta-galactosidase and the serine carboxypeptidase protective protein/cathepsin A (PPCA). Association of the enzyme with PPCA is crucial for its correct targeting and lysosomal activation. In man two genetically distinct...

journal_title：Human molecular genetics

authors： Rottier RJ,Bonten E,d'Azzo A

更新日期：1998-02-01 00:00:00

abstract：:The ubiquitin-proteasome system (UPS) is the principal protein degradation system that tags and targets short-lived proteins, as well as damaged or misfolded proteins, for destruction. In spinal and bulbar muscular atrophy (SBMA), the androgen receptor (AR), an Hsp90 client protein, is such a misfolded protein that te...

journal_title：Human molecular genetics

authors： Tokui K,Adachi H,Waza M,Katsuno M,Minamiyama M,Doi H,Tanaka K,Hamazaki J,Murata S,Tanaka F,Sobue G

更新日期：2009-03-01 00:00:00

abstract：:Wolf-Hirschhorn syndrome (WHS) is a complex congenital syndrome caused by a monoallelic deletion of the short arm of chromosome 4. Seizures in WHS have been associated with deletion of LETM1 gene. LETM1 encodes for the human homologue of yeast Mdm38p, a mitochondria-shaping protein of unclear function. Here we show th...

journal_title：Human molecular genetics

authors： Dimmer KS,Navoni F,Casarin A,Trevisson E,Endele S,Winterpacht A,Salviati L,Scorrano L

更新日期：2008-01-15 00:00:00

abstract：:Prader-Willi syndrome (PWS) is an imprinted genetic obesity disorder characterized by abnormalities of growth and metabolism. Multiple mouse models with deficiency of one or more PWS candidate genes have partially correlated individual genes with aspects of the PWS phenotype, although the genetic origin of defects in ...

journal_title：Human molecular genetics

authors： Bischof JM,Stewart CL,Wevrick R

更新日期：2007-11-15 00:00:00

abstract：:X-linked dilated cardiomyopathy (XLDCM) is a clinical phenotype of dystrophinopathy which is characterized by preferential myocardial involvement without any overt clinical signs of skeletal myopathy. To date, several mutations in the Duchenne muscular dystrophy gene, DMD , have been identified in patients with XLDCM,...

journal_title：Human molecular genetics

authors： Yoshida K,Nakamura A,Yazaki M,Ikeda S,Takeda S

更新日期：1998-07-01 00:00:00