Overexpression of yeast hsp104 reduces polyglutamine aggregation and prolongs survival of a transgenic mouse model of Huntington's disease.

abstract：:Migraine is a prevalent, debilitating and costly disorder with an ongoing unmet medical need. Human genetic studies have provided considerable insights into the molecular underpinnings of this complex brain disorder. Classical linkage studies have revealed the causes of familial hemiplegic migraine, while more recentl...

journal_title：Human molecular genetics

authors： Zameel Cader M

更新日期：2013-10-15 00:00:00

abstract：:Mutations in the gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase (PDE6C) have been recently reported in patients with autosomal recessive inherited achromatopsia (ACHM) and early-onset cone photoreceptor dysfunction. Here we present the results of a comprehensive study on PDE6C mutation...

journal_title：Human molecular genetics

authors： Grau T,Artemyev NO,Rosenberg T,Dollfus H,Haugen OH,Cumhur Sener E,Jurklies B,Andreasson S,Kernstock C,Larsen M,Zrenner E,Wissinger B,Kohl S

更新日期：2011-02-15 00:00:00

abstract：:Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterized by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of a gene encoding a serine...

journal_title：Human molecular genetics

authors： Whiting EJ,Waring JD,Tamai K,Somerville MJ,Hincke M,Staines WA,Ikeda JE,Korneluk RG

更新日期：1995-06-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for approximately 85% of cases whereas PKD2 on chromosome 4 accounts for approximately 15%. Mutations in the PKD3 gene are rare. All patients present with similar clinical phenotypes, and t...

journal_title：Human molecular genetics

authors： Koptides M,Hadjimichael C,Koupepidou P,Pierides A,Constantinou Deltas C

更新日期：1999-03-01 00:00:00

abstract：:Adolescent idiopathic scoliosis (AIS) is a complex inherited spinal deformity whose etiology has been elusive. While common genetic variants are associated with AIS, they explain only a small portion of disease risk. To explore the role of rare variants in AIS susceptibility, exome sequence data of 391 severe AIS case...

journal_title：Human molecular genetics

authors： Haller G,Alvarado D,Mccall K,Yang P,Cruchaga C,Harms M,Goate A,Willing M,Morcuende JA,Baschal E,Miller NH,Wise C,Dobbs MB,Gurnett CA

更新日期：2016-01-01 00:00:00

abstract：:The gene encoding protein kinase WNK2 was recently identified to be silenced by promoter hypermethylation in gliomas and meningiomas, suggesting a tumour-suppressor role in these brain tumours. Following experimental depletion in cell lines, WNK2 was further found to control GTP-loading of Rac1, a signalling guanosine...

journal_title：Human molecular genetics

authors： Moniz S,Martinho O,Pinto F,Sousa B,Loureiro C,Oliveira MJ,Moita LF,Honavar M,Pinheiro C,Pires M,Lopes JM,Jones C,Costello JF,Paredes J,Reis RM,Jordan P

更新日期：2013-01-01 00:00:00

abstract：:We have used inbred and congenic rat strains in F(2) segregation studies to discover epistasis in a polygenic model of hypertension. Previously, we have found evidence that the presence of a blood pressure quantitative trait locus (QTL) on chromosome 1 is conditional upon the allele status of chromosome 10. To prove t...

journal_title：Human molecular genetics

authors： Monti J,Plehm R,Schulz H,Ganten D,Kreutz R,Hübner N

更新日期：2003-02-15 00:00:00

abstract：:The von Hippel-Lindau (VHL) tumour suppressorgene product is believed to be involved in the down-regulation of transcriptional elongation by preventing the association of elongin B and C with the catalytic subunit elongin A. Alterations in the human VHL gene lead to VHL disease which is associated with various rare ne...

journal_title：Human molecular genetics

authors： Hemberger M,Himmelbauer H,Neumann HP,Plate KH,Schwarzkopf G,Fundele R

更新日期：1999-02-01 00:00:00

abstract：:During mitosis, Kif11, a kinesin motor protein, promotes bipolar spindle formation and chromosome movement, and during interphase, Kif11 mediates diverse trafficking processes in the cytoplasm. In humans, inactivating mutations in KIF11 are associated with (1) retinal hypovascularization with or without microcephaly a...

journal_title：Human molecular genetics

authors： Wang Y,Smallwood PM,Williams J,Nathans J

更新日期：2020-05-08 00:00:00

abstract：:Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the human dystrophin gene. About two-thirds of DMD/BMD patients exhibit gross rearrangements in the gene whereas the mutations in the remaining one third are thought to be point mutations or minor structural lesions. By means of various prog...

journal_title：Human molecular genetics

authors： Lenk U,Hanke R,Thiele H,Speer A

更新日期：1993-11-01 00:00:00

abstract：:Karyotypical alteration of chromosome 5 and in particular band 5q13 is a frequent finding in hairy cell leukemia (HCL). We have previously identified a number of candidate genes localized in close proximity to a constitutional inv(5)(p13.1q13.3) breakpoint in one HCL patient. These included beta-hexosaminodase HEXB, f...

journal_title：Human molecular genetics

authors： Hammarsund M,Lerner M,Zhu C,Merup M,Jansson M,Gahrton G,Kluin-Nelemans H,Einhorn S,Grandér D,Sangfelt O,Corcoran M

更新日期：2004-12-01 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder with impaired very long-chain fatty acid (VLCFA) metabolism. The disease-associated ABCD1 (ALD) gene encodes a peroxisomal membrane protein, which belongs to the superfamily of ATP-binding cassette transporters. Several treatment regimes have...

journal_title：Human molecular genetics

authors： Weinhofer I,Forss-Petter S,Zigman M,Berger J

更新日期：2002-10-15 00:00:00

abstract：:The term 'dynamic mutation' was introduced to distinguish the unique properties of expanding, unstable DNA repeat sequences from other forms of mutation. The past decade has seen dynamic mutations uncovered as the molecular basis for a growing number of human genetic diseases and for all of the characterized 'rare' ch...

journal_title：Human molecular genetics

authors： Richards RI

更新日期：2001-10-01 00:00:00

abstract：:The oculo-auriculo-vertebral spectrum (OAVS) (OMIM % 164210) is a common developmental disorder characterized by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a pat...

journal_title：Human molecular genetics

authors： Fischer S,Lüdecke HJ,Wieczorek D,Böhringer S,Gillessen-Kaesbach G,Horsthemke B

更新日期：2006-02-15 00:00:00

abstract：:Detailed knowledge of linkage disequilibrium (LD) is regarded as a prerequisite for population-based disease gene mapping. Variable patterns across the human genome are now recognized, both between regions and populations. Here, we demonstrate that LD may also vary within a genomic region in a haplotype-specific manne...

journal_title：Human molecular genetics

authors： Ahmad T,Neville M,Marshall SE,Armuzzi A,Mulcahy-Hawes K,Crawshaw J,Sato H,Ling KL,Barnardo M,Goldthorpe S,Walton R,Bunce M,Jewell DP,Welsh KI

更新日期：2003-03-15 00:00:00

abstract：:To elucidate the molecular mechanisms of impaired elastic fiber formation in recessive cutis laxa, we have investigated two disease-causing missense substitutions in fibulin-5, C217R and S227P. Pulse-chase immunoprecipitation experiments indicated that S227P mutant fibulin-5 was synthesized and secreted by skin fibrob...

journal_title：Human molecular genetics

authors： Hu Q,Loeys BL,Coucke PJ,De Paepe A,Mecham RP,Choi J,Davis EC,Urban Z

更新日期：2006-12-01 00:00:00

abstract：:Glial cell line-derived neurotrophic factor (GDNF), a distant member of the TGF-beta superfamily, is a survival factor for various neurons, making it a potential therapeutic agent for neurodegenerative disorders. Here we present the genomic structure and characterization of the promoter of the human GDNF (hGDNF) gene....

journal_title：Human molecular genetics

authors： Grimm L,Holinski-Feder E,Teodoridis J,Scheffer B,Schindelhauer D,Meitinger T,Ueffing M

更新日期：1998-11-01 00:00:00

abstract：:Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular disease that affects the aorta, carotid, coronary and pulmonary arteries. Previous molecular genetic data have led to the hypothesis that SVAS results from mutations in the elastin gene, ELN. In these studies, the disease phenotype was linked to...

journal_title：Human molecular genetics

authors： Li DY,Toland AE,Boak BB,Atkinson DL,Ensing GJ,Morris CA,Keating MT

更新日期：1997-07-01 00:00:00

abstract：:p53 is one of the most important known tumor suppressor genes, and it is inactivated in approximately half of human cancers. p53 family members execute various functions, such as apoptosis induction and cell cycle arrest, by modulating transcriptional regulation. Therefore, the direct transcriptional targets of the p5...

journal_title：Human molecular genetics

authors： Idogawa M,Ohashi T,Sasaki Y,Maruyama R,Kashima L,Suzuki H,Tokino T

更新日期：2014-06-01 00:00:00

abstract：:Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting in a loss of a ubiquitously expressed protein, gigaxonin. Gene replacement therapy is a promising strategy for treatment of the disease; however, the effectiveness and safety of gi...

journal_title：Human molecular genetics

authors： Johnson-Kerner BL,Ahmad FS,Diaz AG,Greene JP,Gray SJ,Samulski RJ,Chung WK,Van Coster R,Maertens P,Noggle SA,Henderson CE,Wichterle H

更新日期：2015-03-01 00:00:00

abstract：:The von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene on human chromosome 3p25. It is characterized clinically by vascular tumors including benign hemangioblastomas of the cerebellum, spine, brain stem and retina. Clear-cell ren...

journal_title：Human molecular genetics

authors： Friedrich CA

更新日期：2001-04-01 00:00:00

abstract：:Glomerular disease is one of the most common causes of end-stage renal failure. Increasing evidence suggests that these glomerulopathies are frequently caused by primary lesions in the renal podocytes. One of the major consequences of podocyte lesions is the accumulation of mesangial matrix in the glomerular basement ...

journal_title：Human molecular genetics

authors： Guo JK,Menke AL,Gubler MC,Clarke AR,Harrison D,Hammes A,Hastie ND,Schedl A

更新日期：2002-03-15 00:00:00

abstract：:Uncontrolled cell cycle entry, resulting from deregulated CDK-RB1-E2F pathway activity, is a crucial determinant of neuroblastoma cell malignancy. Here we identify neuroblastoma-suppressive functions of the p19-INK4d CDK inhibitor and uncover mechanisms of its repression in high-risk neuroblastomas. Reduced p19-INK4d ...

journal_title：Human molecular genetics

authors： Dreidax D,Bannert S,Henrich KO,Schröder C,Bender S,Oakes CC,Lindner S,Schulte JH,Duffy D,Schwarzl T,Saadati M,Ehemann V,Benner A,Pfister S,Fischer M,Westermann F

更新日期：2014-12-20 00:00:00

abstract：:Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During analysis of a whole-exome-sequenced cohort of heterogeneous CHD ...

journal_title：Human molecular genetics

authors： Alankarage D,Szot JO,Pachter N,Slavotinek A,Selleri L,Shieh JT,Winlaw D,Giannoulatou E,Chapman G,Dunwoodie SL

更新日期：2020-05-08 00:00:00

abstract：:We have shown previously that AWT1 and WT1-AS are functionally imprinted in human kidney. In the adult kidney, expression of both transcripts is restricted to the paternal allele, with the silent maternal allele retaining methylation at the WT1 antisense regulatory region (WT1 ARR). Here, we report characterization of...

journal_title：Human molecular genetics

authors： Hancock AL,Brown KW,Moorwood K,Moon H,Holmgren C,Mardikar SH,Dallosso AR,Klenova E,Loukinov D,Ohlsson R,Lobanenkov VV,Malik K

更新日期：2007-02-01 00:00:00

abstract：:Most quantitative trait loci (QTL) studies have focused on detecting the genetic effects of individual QTLs. This study thoroughly dissected the genetic components of type 2 diabetic mice, including a search for epistatic interactions and multi-locus additive effects that result in variation in diabetes-related phenot...

journal_title：Human molecular genetics

authors： Togawa K,Moritani M,Yaguchi H,Itakura M

更新日期：2006-01-01 00:00:00

abstract：:According to the telomere hypothesis of senescence, the progressive shortening of telomeres that occurs upon division of normal somatic cells eventually leads to cellular senescence. The immortalisation of human cells is associated with the acquisition of a telomere maintenance mechanism which is usually dependent upo...

journal_title：Human molecular genetics

authors： Bryan TM,Marusic L,Bacchetti S,Namba M,Reddel RR

更新日期：1997-06-01 00:00:00

abstract：:P/Q-type voltage-gated calcium channels are regulated, in part, through the cytoplasmic C-terminus of their alpha1A subunit. Genetic absence or alteration of the C-terminus leads to abnormal channel function and neurological disease. Here, we show that the terminal 60-75 kDa of the endogenous alpha1A C-terminus is cle...

journal_title：Human molecular genetics

authors： Kordasiewicz HB,Thompson RM,Clark HB,Gomez CM

更新日期：2006-05-15 00:00:00

abstract：:F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ...

journal_title：Human molecular genetics

authors： Mayr JA,Havlícková V,Zimmermann F,Magler I,Kaplanová V,Jesina P,Pecinová A,Nusková H,Koch J,Sperl W,Houstek J

更新日期：2010-09-01 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