Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity.

abstract：:Atopic (allergic) asthma is the most common disease of childhood and is strongly genetic in origin. Many genome-wide screens for asthma and its associated traits have now been carried out, and genetic linkage has been consistently identified in several regions. It is probable that these loci contain major genes influe...

journal_title：Human molecular genetics

authors： Cookson WO,Moffatt MF

更新日期：2000-10-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin along muscle fibers. An attractive therapeutic avenue for DMD consists in the upregulation of utrophin A, a protein with high sequence identity and functional redundancy with dystrophin. Recent work has shown that pharmacological interventions th...

journal_title：Human molecular genetics

authors： Al-Rewashdy H,Ljubicic V,Lin W,Renaud JM,Jasmin BJ

更新日期：2015-03-01 00:00:00

abstract：:Huntingtin-associated protein 1 (Hap1) is the first huntingtin interacting protein identified in a yeast two-hybrid screen. Although Hap1 expression has been demonstrated in neuronal and non-neuronal tissues, its molecular role is poorly understood. Recently, it has been shown that targeted disruption of Hap1 in mice ...

journal_title：Human molecular genetics

authors： Dragatsis I,Zeitlin S,Dietrich P

更新日期：2004-12-15 00:00:00

abstract：:Although the varepsilon4 allele of the apolipoprotein E gene appears as an important biological marker for Alzheimer's disease (AD) susceptibility, other genetic determinants are clearly implicated in the AD process. Here, we propose that a genetic variation in the transcriptional factor LBP-1c/CP2/LSF gene, located c...

journal_title：Human molecular genetics

authors： Lambert JC,Goumidi L,Vrièze FW,Frigard B,Harris JM,Cummings A,Coates J,Pasquier F,Cottel D,Gaillac M,St Clair D,Mann DM,Hardy J,Lendon CL,Amouyel P,Chartier-Harlin MC

更新日期：2000-09-22 00:00:00

abstract：:Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13. Affected individuals exhibit neonatal hypotonia, developmental delay and childhood-onset obesity. Necdin, a protein implicated in the terminal differentiation of neurons, is the only PWS candidate gene to reduce...

journal_title：Human molecular genetics

authors： Lee S,Kozlov S,Hernandez L,Chamberlain SJ,Brannan CI,Stewart CL,Wevrick R

更新日期：2000-07-22 00:00:00

abstract：:Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder that results from the expansion of a cryptic CAG repeat within the exon 1 of the SCA2 gene. The CAG repeat in normal individuals varies in length from 14 to 31 repeats and is frequently interrupted by one or more CAA triplets, whereas ...

journal_title：Human molecular genetics

authors： Choudhry S,Mukerji M,Srivastava AK,Jain S,Brahmachari SK

更新日期：2001-10-01 00:00:00

abstract：:Mutations in Fused in sarcoma (FUS) gene cause a subset of familial amyotrophic lateral sclerosis (ALS), a fatal motor neuron degenerative disease. Wild-type FUS is largely localized in the nucleus, but mutant FUS accumulates in the cytoplasm and forms inclusions. It is unclear whether FUS depletion from the nucleus o...

journal_title：Human molecular genetics

authors： Yang L,Zhang J,Kamelgarn M,Niu C,Gal J,Gong W,Zhu H

更新日期：2015-09-15 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：:We have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish alpha globin gene clusters and compared them with the corresponding region in man. This has defined a small segment ( approximately 135-155 kb) of synteny and conserved gene order, which may contain all of the elements r...

journal_title：Human molecular genetics

authors： Flint J,Tufarelli C,Peden J,Clark K,Daniels RJ,Hardison R,Miller W,Philipsen S,Tan-Un KC,McMorrow T,Frampton J,Alter BP,Frischauf AM,Higgs DR

更新日期：2001-02-15 00:00:00

abstract：:Filamin B (FLNB) is a cytoplasmic protein that regulates the cytoskeletal network by cross-linking actin, linking cell membrane to the cytoskeleton and regulating intracellular signaling pathways responsible for skeletal development (Stossel, T.P., Condeelis, J., Cooley, L., Hartwig, J.H., Noegel, A., Schleicher, M. a...

journal_title：Human molecular genetics

authors： Lu J,Lian G,Lenkinski R,De Grand A,Vaid RR,Bryce T,Stasenko M,Boskey A,Walsh C,Sheen V

更新日期：2007-07-15 00:00:00

abstract：:Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic syndrome presenting in early life, Finnish type congenital nephrotic syndrome (CNF) and a form of autosomal recessive familial focal segmental glomerulosclerosis (SRN1), respectively. To inves...

journal_title：Human molecular genetics

authors： Koziell A,Grech V,Hussain S,Lee G,Lenkkeri U,Tryggvason K,Scambler P

更新日期：2002-02-15 00:00:00

abstract：:Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage studies have clearly identified a primary disease susceptibility locus lying within the major histocompatibility complex (MHC), but have generated conflicting results for other genomic regions. To overcome this difficult...

journal_title：Human molecular genetics

authors： Capon F,Bijlmakers MJ,Wolf N,Quaranta M,Huffmeier U,Allen M,Timms K,Abkevich V,Gutin A,Smith R,Warren RB,Young HS,Worthington J,Burden AD,Griffiths CE,Hayday A,Nestle FO,Reis A,Lanchbury J,Barker JN,Trembath RC

更新日期：2008-07-01 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：: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：: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：:Mutations of mitochondrial DNA are linked to many human diseases. Despite the identification of a large number of variants in the mitochondrially encoded rRNA (mt-rRNA) genes, the evidence supporting their pathogenicity is, at best, circumstantial. Establishing the pathogenicity of these variations is of major diagnos...

journal_title：Human molecular genetics

authors： Smith PM,Elson JL,Greaves LC,Wortmann SB,Rodenburg RJ,Lightowlers RN,Chrzanowska-Lightowlers ZM,Taylor RW,Vila-Sanjurjo A

更新日期：2014-02-15 00:00:00

abstract：:Meiotic crossovers in the human genome cluster into highly localized hotspots identifiable indirectly from patterns of DNA diversity and directly by high-resolution sperm typing. Little is known about factors that control hotspot activity and the apparently rapid turnover of hotspots during recent evolution. Clues can...

journal_title：Human molecular genetics

authors： Neumann R,Jeffreys AJ

更新日期：2006-05-01 00:00:00

abstract：:The adaptor protein-2 sigma subunit (AP2σ2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2σ2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder of extracellular calcium (Ca(2+) o) homeos...

journal_title：Human molecular genetics

authors： Hannan FM,Howles SA,Rogers A,Cranston T,Gorvin CM,Babinsky VN,Reed AA,Thakker CE,Bockenhauer D,Brown RS,Connell JM,Cook J,Darzy K,Ehtisham S,Graham U,Hulse T,Hunter SJ,Izatt L,Kumar D,McKenna MJ,McKnight JA,Morr

更新日期：2015-09-15 00:00:00

abstract：:The widespread use of persistent organic polybrominated diphenyl ethers (PBDEs) as commercial flame retardants has raised concern about potential long-lived effects on human health. Epigenetic mechanisms, such as DNA methylation, are responsive to environmental influences and have long-lasting consequences. Autism spe...

journal_title：Human molecular genetics

authors： Woods R,Vallero RO,Golub MS,Suarez JK,Ta TA,Yasui DH,Chi LH,Kostyniak PJ,Pessah IN,Berman RF,LaSalle JM

更新日期：2012-06-01 00:00:00

abstract：:Immunoglobulin E (IgE) concentration in serum is elevated in atopic diseases such as asthma. A large genomic region on chromosome 5 has previously been implicated in the control of IgE levels and bronchial hyperreactivity and may, therefore, harbor genes predisposing to asthma. In an effort to confirm this linkage and...

journal_title：Human molecular genetics

authors： Laitinen T,Kauppi P,Ignatius J,Ruotsalainen T,Daly MJ,Kääriäinen H,Kruglyak L,Laitinen H,de la Chapelle A,Lander ES,Laitinen LA,Kere J

更新日期：1997-11-01 00:00:00

abstract：:Keratins K6 and K16 are expressed in suprabasal interfollicular epidermis in wound healing and other pathological conditions associated with hyperproliferation, such as psoriasis and are induced when keratinocytes are cultured in vitro. However, these keratins are also constitutively expressed in normal suprabasal muc...

journal_title：Human molecular genetics

authors： Shamsher MK,Navsaria HA,Stevens HP,Ratnavel RC,Purkis PE,Kelsell DP,McLean WH,Cook LJ,Griffiths WA,Gschmeissner S

更新日期：1995-10-01 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：:Actinic keratosis (AK) is a pre-malignant skin disease, highly prevalent in elderly Europeans. This study investigates genetic susceptibility to AK with a genome-wide association study (GWAS). A full body skin examination was performed in 3194 elderly individuals from the Rotterdam Study (RS) of exclusive north-wester...

journal_title：Human molecular genetics

authors： Jacobs LC,Liu F,Pardo LM,Hofman A,Uitterlinden AG,Kayser M,Nijsten T

更新日期：2015-06-01 00:00:00

abstract：:Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks. A genome-wide search using polymorphic di- and tri-nucleotide repeats was initiated ...

journal_title：Human molecular genetics

authors： von Brederlow B,Hahn AF,Koopman WJ,Ebers GC,Bulman DE

更新日期：1995-02-01 00:00:00

abstract：:The fragile X syndrome is characterized at the molecular level by expansion and methylation of a CGG trinucleotide repeat located within the FMR1 locus. The tissues of most full mutation carriers are mosaic for repeat size, but these mutational patterns tend to be well conserved when comparing multiple tissues within ...

journal_title：Human molecular genetics

authors： Burman RW,Popovich BW,Jacky PB,Turker MS

更新日期：1999-11-01 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：:Since 1998, five disorders involving enzyme defects in post-squalene cholesterol biosynthesis have been identified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolosis, and hydrops-ectopic calcification-moth-eaten skeletal dysplasia. They join the most common cholesterol biosyn...

journal_title：Human molecular genetics

authors： Herman GE

更新日期：2003-04-01 00:00:00

abstract：:The zinc metalloprotease ZMPSTE24 plays a critical role in nuclear lamin biology by cleaving the prenylated and carboxylmethylated 15-amino acid tail from the C-terminus of prelamin A to yield mature lamin A. A defect in this proteolytic event, caused by a mutation in the lamin A gene (LMNA) that eliminates the ZMPSTE...

journal_title：Human molecular genetics

authors： Barrowman J,Wiley PA,Hudon-Miller SE,Hrycyna CA,Michaelis S

更新日期：2012-09-15 00:00:00

abstract：:We have studied the dynamics of mitochondrial DNA maintenance and segregation in human cells using serial cybrid transfer of partially duplicated mitochondrial DNA, from a mitochondrial myopathy patient, to two distinct recipient cell types. The results indicate two radically different outcomes dependent upon nuclear ...

journal_title：Human molecular genetics

authors： Holt IJ,Dunbar DR,Jacobs HT

更新日期：1997-08-01 00:00:00

abstract：:Williams syndrome (WS) is a neurodevelopmental disorder caused by a 1.5-1.8 Mbp deletion on chromosome 7q11.23, affecting the copy number of 26-28 genes. Phenotypes of WS include cardiovascular problems, craniofacial dysmorphology, deficits in visual-spatial cognition and a characteristic hypersocial personality. Ther...

journal_title：Human molecular genetics

authors： Kopp N,McCullough K,Maloney SE,Dougherty JD

更新日期：2019-10-15 00:00:00