Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene.

abstract：:Williams-Beuren syndrome (WBS) is generally the consequence of an interstitial microdeletion at 7q11.23, which includes the elastin gene, thus causing hemizygosity at the elastin gene locus. The origin of the deletion has been reported by many authors to be maternal in approximately 60% and paternal in 40% of cases. S...

journal_title：Human molecular genetics

authors： Dutly F,Schinzel A

更新日期：1996-12-01 00:00:00

abstract：:The human genomic instability syndrome ataxia telangiectasia (A-T), caused by mutations in the gene encoding the DNA damage checkpoint kinase ATM, is characterized by multisystem defects including neurodegeneration, immunodeficiency and increased cancer predisposition. ATM is central to a pathway that responds to doub...

journal_title：Human molecular genetics

authors： Balmus G,Zhu M,Mukherjee S,Lyndaker AM,Hume KR,Lee J,Riccio ML,Reeves AP,Sutter NB,Noden DM,Peters RM,Weiss RS

更新日期：2012-08-01 00:00:00

abstract：:Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal diabetes requiring...

journal_title：Human molecular genetics

authors： Raimondo A,Chakera AJ,Thomsen SK,Colclough K,Barrett A,De Franco E,Chatelas A,Demirbilek H,Akcay T,Alawneh H,International NDM Consortium.,Flanagan SE,Van De Bunt M,Hattersley AT,Gloyn AL,Ellard S,International NDM Consor

更新日期：2014-12-15 00:00:00

abstract：:Alzheimer's disease (AD) and Parkinson's disease (PD), the two most common neurodegenerative disorders in the elderly, have been hypothesized to share genetic determinants. Recently, Li et al. proposed that a variant in the NEDD9 gene may be one of these common genetic factors. We attempted to confirm this initial obs...

journal_title：Human molecular genetics

authors： Chapuis J,Moisan F,Mellick G,Elbaz A,Silburn P,Pasquier F,Hannequin D,Lendon C,Campion D,Amouyel P,Lambert JC

更新日期：2008-09-15 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：:Selenoprotein N (SelN) deficiency causes a group of inherited neuromuscular disorders termed SEPN1-related myopathies (SEPN1-RM). Although the function of SelN remains unknown, recent data demonstrated that it is dispensable for mouse embryogenesis and suggested its involvement in the regulation of ryanodine receptors...

journal_title：Human molecular genetics

authors： Castets P,Bertrand AT,Beuvin M,Ferry A,Le Grand F,Castets M,Chazot G,Rederstorff M,Krol A,Lescure A,Romero NB,Guicheney P,Allamand V

更新日期：2011-02-15 00:00:00

abstract：:The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells (hNCC) develop toward the end of the first month of pregnancy. It is assumed that most differentiate after migrating thr...

journal_title：Human molecular genetics

authors： Thomas S,Thomas M,Wincker P,Babarit C,Xu P,Speer MC,Munnich A,Lyonnet S,Vekemans M,Etchevers HC

更新日期：2008-11-01 00:00:00

abstract：:Osteoarthritis is a common, complex disease with no curative therapy. In this review, we summarize current knowledge on disease aetiopathogenesis and outline genetics and genomics approaches that are helping catalyse a much-needed improved understanding of the biological underpinning of disease development and progres...

journal_title：Human molecular genetics

authors： Cibrián Uhalte E,Wilkinson JM,Southam L,Zeggini E

更新日期：2017-10-01 00:00:00

abstract：:The striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin, a giant molecule that contains several immunoglobulin (Ig...

journal_title：Human molecular genetics

authors： Salmikangas P,Mykkänen OM,Grönholm M,Heiska L,Kere J,Carpén O

更新日期：1999-07-01 00:00:00

abstract：:We isolated peroxisome biogenesis mutants ZP128 and ZP150 from rat PEX2 -transformed Chinese hamster ovary (CHO) cells, by the 9-(1'-pyrene)nonanol/ultraviolet method. The mutants lacked morphologically recognizable peroxisomes and showed a typical peroxisome assembly-defective phenotype such as a high sensitivity to ...

journal_title：Human molecular genetics

authors： Toyama R,Mukai S,Itagaki A,Tamura S,Shimozawa N,Suzuki Y,Kondo N,Wanders RJ,Fujiki Y

更新日期：1999-09-01 00:00:00

abstract：:The molecular defects responsible for three cases of severe (type III) osteogenesis imperfecta (OI) were investigated. The mutation sites were localized in pro alpha 1(I) and pro alpha 2(I) mRNA molecules, respectively, by chemical cleavage of mismatch in heteroduplex nucleic acids. Mutation identification was achieve...

journal_title：Human molecular genetics

authors： Forlino A,Zolezzi F,Valli M,Pignatti PF,Cetta G,Brunelli PC,Mottes M

更新日期：1994-12-01 00:00:00

abstract：:Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of the extrahepatic biliary system during the first few weeks of life. Despite early diagnosis and prompt surgical intervention, the disease progresses to cirrhosis in many patients. The current theory for the pathogenesis of BA prop...

journal_title：Human molecular genetics

authors： Garcia-Barceló MM,Yeung MY,Miao XP,Tang CS,Cheng G,So MT,Ngan ES,Lui VC,Chen Y,Liu XL,Hui KJ,Li L,Guo WH,Sun XB,Tou JF,Chan KW,Wu XZ,Song YQ,Chan D,Cheung K,Chung PH,Wong KK,Sham PC,Cherny SS,Tam PK

更新日期：2010-07-15 00:00:00

abstract：:We have used the direct cDNA screening protocol to identify sequences transcribed in cerebral cortex from a reference library of human Xq28. To derive coding sequences from these genomic clones, we first identified fragments containing transcribed sequences and subjected these to exon trapping or to partial sequencing...

journal_title：Human molecular genetics

authors： Lawrence BJ,Schwabe W,Kioschis P,Coy JF,Poustka A,Brennan MB,Hochgeschwender U

更新日期：1994-11-01 00:00:00

abstract：:Congenital heart defects affect at least 0.8% of newborn children and are a major cause of lethality prior to birth. Malformations of the arterial pole are particularly frequent. The myocardium at the base of the pulmonary trunk and aorta and the arterial tree associated with these great arteries are derived from spla...

journal_title：Human molecular genetics

authors： Vincent SD,Mayeuf-Louchart A,Watanabe Y,Brzezinski JA 4th,Miyagawa-Tomita S,Kelly RG,Buckingham M

更新日期：2014-10-01 00:00:00

abstract：:Mitochondrial dysfunction is implicated in aging and degenerative disorders such as Parkinson's disease (PD). Continuous fission and fusion of mitochondria shapes their morphology and is essential to maintain oxidative phosphorylation. Loss-of-function mutations in PTEN-induced kinase1 (PINK1) or Parkin cause a recess...

journal_title：Human molecular genetics

authors： Lee S,Sterky FH,Mourier A,Terzioglu M,Cullheim S,Olson L,Larsson NG

更新日期：2012-11-15 00:00:00

abstract：:Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair, providing a potential hypothesis to the underlying pathophysiology of these diseases. The size of the dysferlin cDNA prevents...

journal_title：Human molecular genetics

authors： Lostal W,Bartoli M,Bourg N,Roudaut C,Bentaïb A,Miyake K,Guerchet N,Fougerousse F,McNeil P,Richard I

更新日期：2010-05-15 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

abstract：:The expansion of CAG.CTG trinucleotide repeats has been associated with an increasing number of human diseases. Once into the expanded disease-associated range, the repeats become dramatically unstable in the germline and also throughout the soma. Instability is expansion-biased, contributing towards the unusual genet...

journal_title：Human molecular genetics

authors： Gomes-Pereira M,Fortune MT,Monckton DG

更新日期：2001-04-01 00:00:00

abstract：:X-linked spinal and bulbar muscular atrophy (SBMA; Kennedy's disease) is a polyglutamine (polyQ) disease in which the affected males suffer progressive motor neuron degeneration accompanied by signs of androgen insensitivity, such as gynecomastia and reduced fertility. SBMA is caused by CAG repeat expansions in the an...

journal_title：Human molecular genetics

authors： Thomas PS Jr,Fraley GS,Damian V,Woodke LB,Zapata F,Sopher BL,Plymate SR,La Spada AR

更新日期：2006-07-15 00:00:00

abstract：:Mutations in PTEN-induced putative kinase 1 (PINK1) or parkin cause autosomal recessive forms of Parkinson disease (PD), but how these mutations trigger neurodegeneration is poorly understood and the exact functional relationship between PINK1 and parkin remains unclear. Here, we report that PINK1 regulates the E3 ubi...

journal_title：Human molecular genetics

authors： Sha D,Chin LS,Li L

更新日期：2010-01-15 00:00:00

abstract：:Family history of endometrial cancer increases the risk of developing the disease, but it is still largely unknown which germ-line genetic factors are involved in the aetiology of endometrial cancer. In a Swedish population-based case-control study including 705 cases and 1565 controls, we examined common variation in...

journal_title：Human molecular genetics

authors： Einarsdóttir K,Humphreys K,Bonnard C,Li Y,Li Y,Chia KS,Liu ET,Hall P,Liu J,Wedrén S

更新日期：2007-01-15 00:00:00

abstract：:Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene. The MNK gene encodes a copper-transporting P-type ATPase, MNK, which is localized predominantly in the trans-Golgi network (TGN). The MNK protein relocates to the plasma membrane in cells exposed to elevated...

journal_title：Human molecular genetics

authors： Petris MJ,Strausak D,Mercer JF

更新日期：2000-11-22 00:00:00

abstract：:Understanding mediation is useful for identifying intermediates lying between an exposure and an outcome which, when intervened upon, will block (some or all of) the causal pathway between the exposure and outcome. Mediation approaches used in conventional epidemiology have been adapted to understanding the role of mo...

journal_title：Human molecular genetics

authors： Richmond RC,Hemani G,Tilling K,Davey Smith G,Relton CL

更新日期：2016-10-01 00:00:00

abstract：:Research of cilia has gained significant momentum in the last 15 years, as an increasing number of human genetic diseases were found to be caused by disruption of a protein that localizes to cilia. These ciliopathies are as diverse as the functions of the associated proteins, covering a spectrum of overlapping phenoty...

journal_title：Human molecular genetics

authors： van Reeuwijk J,Arts HH,Roepman R

更新日期：2011-10-15 00:00:00

abstract：:Neurodevelopmental disorders frequently share common clinical features and appear high rate of comorbidity, such as those present in patients with attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASD). While characterizing behavioral phenotypes in the mouse model of cyclin-dependent kinas...

journal_title：Human molecular genetics

authors： Jhang CL,Huang TN,Hsueh YP,Liao W

更新日期：2017-10-15 00:00:00

abstract：:The high affinity receptor for IgE (Fc epsilon RI) has a central role in mast cell degranulation and IgE mediated allergy. A systematic search through the coding regions of the beta subunit of Fc epsilon RI (Fc epsilon RI-beta) has identified a novel coding polymorphism in exon seven. An adenine to guanine substitutio...

journal_title：Human molecular genetics

authors： Hill MR,Cookson WO

更新日期：1996-07-01 00:00:00

abstract：:Integrating single-cell RNA sequencing (scRNA-seq) data with genotypes obtained from DNA sequencing studies facilitates the detection of functional genetic variants underlying cell type-specific gene expression variation. Unfortunately, most existing scRNA-seq studies do not come with DNA sequencing data; thus, being ...

journal_title：Human molecular genetics

authors： Schnepp PM,Chen M,Keller ET,Zhou X

更新日期：2019-11-01 00:00:00

abstract：:Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. Previous in vitro studies have shown that seipinopathy-linked m...

journal_title：Human molecular genetics

authors： Yagi T,Ito D,Nihei Y,Ishihara T,Suzuki N

更新日期：2011-10-01 00:00:00

abstract：:Thyroid-stimulating hormone (TSH) is a sensitive indicator of thyroid function. High and low TSH levels reflect hypothyroidism and hyperthyroidism, respectively. Even within the normal range, small differences in TSH levels, on the order of 0.5-1.0 mU/l, are associated with significant differences in blood pressure, B...

journal_title：Human molecular genetics

authors： Zhan M,Chen G,Pan CM,Gu ZH,Zhao SX,Liu W,Wang HN,Ye XP,Xie HJ,Yu SS,Liang J,Gao GQ,Yuan GY,Zhang XM,Zuo CL,Su B,Huang W,Ning G,Chen SJ,Chen JL,Song HD,China Consortium for Genetics of Autoimmune Thyroid Disease.

更新日期：2014-10-15 00:00:00

abstract：:Large expansions of hexanucleotide GGGGCC (G4C2) repeats (hundreds to thousands) in the first intron of the chromosome 9 open reading frame 72 (C9orf72) locus are the strongest known genetic factor associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Different hypotheses exist about the...

journal_title：Human molecular genetics

authors： Swaminathan A,Bouffard M,Liao M,Ryan S,Callister JB,Pickering-Brown SM,Armstrong GAB,Drapeau P

更新日期：2018-05-15 00:00:00