WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis.

abstract：:Chronic obstructive pulmonary disease (COPD) is characterized by airway epithelial damage, bronchoconstriction, parenchymal destruction and mucus hypersecretion. Upon activation by a broad range of stimuli, transient receptor potential vanilloid 4 (TRPV4) functions to control airway epithelial cell volume and epitheli...

journal_title：Human molecular genetics

authors： Zhu G,ICGN Investigators.,Gulsvik A,Bakke P,Ghatta S,Anderson W,Lomas DA,Silverman EK,Pillai SG

更新日期：2009-06-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified gen...

journal_title：Human molecular genetics

authors： Aldahmesh MA,Li Y,Alhashem A,Anazi S,Alkuraya H,Hashem M,Awaji AA,Sogaty S,Alkharashi A,Alzahrani S,Al Hazzaa SA,Xiong Y,Kong S,Sun Z,Alkuraya FS

更新日期：2014-06-15 00:00:00

abstract：:Amelogenesis imperfecta (AI) describes a broad group of clinically and genetically heterogeneous inherited defects of dental enamel bio-mineralization. Despite identification of a number of genetic mutations underlying AI, the precise causal mechanisms have yet to be determined. Using a multi-disciplinary approach, we...

journal_title：Human molecular genetics

authors： Barron MJ,Brookes SJ,Kirkham J,Shore RC,Hunt C,Mironov A,Kingswell NJ,Maycock J,Shuttleworth CA,Dixon MJ

更新日期：2010-04-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disorder caused by mutations in the DMD gene that leads to the absence or severe reduction of dystrophin protein in muscle. The mdx mouse, also dystrophin deficient, is the model most widely used to study the pathology and test potential therapies, but the p...

journal_title：Human molecular genetics

authors： Coles CA,Gordon L,Hunt LC,Webster T,Piers AT,Kintakas C,Woodman K,Touslon SL,Smythe GM,White JD,Lamandé SR

更新日期：2020-02-01 00:00:00

abstract：:Members of the peroxisome proliferator-activated receptor gamma coactivator (PGC) family are potent inducers of mitochondrial biogenesis. We have tested the potential effect of increased mitochondrial biogenesis in cells derived from patients harboring oxidative phosphorylation defects due to either nuclear or mitocho...

journal_title：Human molecular genetics

authors： Srivastava S,Diaz F,Iommarini L,Aure K,Lombes A,Moraes CT

更新日期：2009-05-15 00:00:00

abstract：:ICF syndrome has been described as the association of variable immunodeficiency, facial anomalies and centromeric heterochromatin instability. Since the chromosome rearrangements seen in cells of ICF patients are reminiscent of the chromosomal changes induced by the undermethylating agent 5-azacytidine in the late S-p...

journal_title：Human molecular genetics

authors： Jeanpierre M,Turleau C,Aurias A,Prieur M,Ledeist F,Fischer A,Viegas-Pequignot E

更新日期：1993-06-01 00:00:00

abstract：:Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase...

journal_title：Human molecular genetics

authors： Weterman MAJ,Kuo M,Kenter SB,Gordillo S,Karjosukarso DW,Takase R,Bronk M,Oprescu S,van Ruissen F,Witteveen RJW,Bienfait HME,Breuning M,Verhamme C,Hou YM,de Visser M,Antonellis A,Baas F

更新日期：2018-12-01 00:00:00

abstract：:The tumour suppressor gene PTEN encodes a dual-specificity phosphatase that recognizes protein substrates and phosphatidylinositol-3,4,5-triphosphate. PTEN seems to play multiple roles in tumour suppression and the blockade of phosphoinositide-3-kinase signalling is important for its growth suppressive effects, althou...

journal_title：Human molecular genetics

authors： Weng LP,Smith WM,Brown JL,Eng C

更新日期：2001-03-15 00:00:00

abstract：:Sonic Hedgehog (SHH) is one of the most intensively studied genes in developmental biology. It is a highly conserved gene, found in species as diverse as arthropods and mammals. The mammalian SHH encodes a signaling molecule that plays a central role in developmental patterning, especially of the nervous system and th...

journal_title：Human molecular genetics

authors： Dorus S,Anderson JR,Vallender EJ,Gilbert SL,Zhang L,Chemnick LG,Ryder OA,Li W,Lahn BT

更新日期：2006-07-01 00:00:00

abstract：:Spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease) is one of nine neurodegenerative disorders that are caused by expansion of polyglutamine-encoding CAG repeats. Intracellular accumulation of abnormal proteins in these diseases, a pathological hallmark, is associated with defects in protein hom...

journal_title：Human molecular genetics

authors： Bott LC,Badders NM,Chen KL,Harmison GG,Bautista E,Shih CC,Katsuno M,Sobue G,Taylor JP,Dantuma NP,Fischbeck KH,Rinaldi C

更新日期：2016-05-15 00:00:00

abstract：:A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients. A total of 1703 patients was screened from five different populations representing three racial group...

journal_title：Human molecular genetics

authors： Fingert JH,Héon E,Liebmann JM,Yamamoto T,Craig JE,Rait J,Kawase K,Hoh ST,Buys YM,Dickinson J,Hockey RR,Williams-Lyn D,Trope G,Kitazawa Y,Ritch R,Mackey DA,Alward WL,Sheffield VC,Stone EM

更新日期：1999-05-01 00:00:00

abstract：:The extracellular microfibril, 10-14 nm in diameter, performs a number of functions, including serving as the scaffolding for deposition of tropoelastin to form elastic fibers. A variety of proteins compose the structure of microfibrils, the most prominent of which are the two fibrillins. Fibrillin-1 is encoded by FBN...

journal_title：Human molecular genetics

authors： Dietz HC,Pyeritz RE

更新日期：1995-01-01 00:00:00

abstract：:Manipulation of the mouse genome by site-specific mutagenesis has been extensively used to study gene function and model human disorders. Mouse models of myotubular myopathy (XLMTM), a severe congenital muscular disorder due to loss-of-function mutations in the MTM1 gene, have been generated by homologous recombinatio...

journal_title：Human molecular genetics

authors： Joubert R,Vignaud A,Le M,Moal C,Messaddeq N,Buj-Bello A

更新日期：2013-05-01 00:00:00

abstract：:Glutamine (Q) expansion diseases are a family of degenerative disorders caused by the lengthening of CAG triplet repeats present in the coding sequences of seemingly unrelated genes whose mutant proteins drive pathogenesis. Despite all the molecular evidence for the genetic basis of these diseases, how mutant poly-Q p...

journal_title：Human molecular genetics

authors： Xiao H,Yu Z,Wu Y,Nan J,Merry DE,Sekiguchi JM,Ferguson DO,Lieberman AP,Dressler GR

更新日期：2012-10-01 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：:Costello syndrome (CS) is a developmental disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, mental retardation and skin and musculo-skeletal defects. CS is caused by HRAS germline mutations. In the majority of cases, mutations affect Gly(12) and Gly(13) and are associated with a ...

journal_title：Human molecular genetics

authors： Gremer L,De Luca A,Merbitz-Zahradnik T,Dallapiccola B,Morlot S,Tartaglia M,Kutsche K,Ahmadian MR,Rosenberger G

更新日期：2010-03-01 00:00:00

abstract：:Mutations in the survival motor neuron (SMN1) gene lead to the neuromuscular disease spinal muscular atrophy (SMA). Although SMA is primarily considered as a motor neuron disease, the importance of muscle defects in its pathogenesis has not been fully examined. We use both primary cell culture and two different SMA mo...

journal_title：Human molecular genetics

authors： Boyer JG,Deguise MO,Murray LM,Yazdani A,De Repentigny Y,Boudreau-Larivière C,Kothary R

更新日期：2014-08-15 00:00:00

abstract：:Parkinson's disease (PD) is associated with olfactory defects in addition to dopaminergic degeneration. Dopaminergic signalling is necessary for subventricular zone (SVZ) proliferation and olfactory bulb (OB) neurogenesis. Alpha-synuclein (α-syn or Snca) modulates dopaminergic neurotransmission, and SNCA mutations cau...

journal_title：Human molecular genetics

authors： Zhang XM,Anwar S,Kim Y,Brown J,Comte I,Cai H,Cai NN,Wade-Martins R,Szele FG

更新日期：2019-07-15 00:00:00

abstract：:A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine ...

journal_title：Human molecular genetics

authors： Halford S,Wadey R,Roberts C,Daw SC,Whiting JA,O'Donnell H,Dunham I,Bentley D,Lindsay E,Baldini A

更新日期：1993-12-01 00:00:00

abstract：:Chromogranins are pro-hormone secretory proteins released from neuroendocrine cells, with effects on control of blood pressure. We conducted a genome-wide association study for plasma catestatin, the catecholamine release inhibitory peptide derived from chromogranin A (CHGA), and other CHGA- or chromogranin B (CHGB)-r...

journal_title：Human molecular genetics

authors： Benyamin B,Maihofer AX,Schork AJ,Hamilton BA,Rao F,Schmid-Schönbein GW,Zhang K,Mahata M,Stridsberg M,Schork NJ,Biswas N,Hook VY,Wei Z,Montgomery GW,Martin NG,Nievergelt CM,Whitfield JB,O'Connor DT

更新日期：2017-01-01 00:00:00

abstract：:Determining the full complement of protein-coding genes is a key goal of genome annotation. The most powerful approach for confirming protein-coding potential is the detection of cellular protein expression through peptide mass spectrometry (MS) experiments. Here, we mapped peptides detected in seven large-scale prote...

journal_title：Human molecular genetics

authors： Ezkurdia I,Juan D,Rodriguez JM,Frankish A,Diekhans M,Harrow J,Vazquez J,Valencia A,Tress ML

更新日期：2014-11-15 00:00:00

abstract：:Huntington's disease (HD) is one of a class of inherited progressive neurodegenerative disorders that are caused by a CAG/polyglutamine repeat expansion. We have previously generated mice that are transgenic for exon 1 of the HD gene carrying highly expanded CAG repeats which develop a progressive movement disorder an...

journal_title：Human molecular genetics

authors： Sathasivam K,Hobbs C,Turmaine M,Mangiarini L,Mahal A,Bertaux F,Wanker EE,Doherty P,Davies SW,Bates GP

更新日期：1999-05-01 00:00:00

abstract：:Recombination was measured across nine intervals in the human beta-globin gene cluster by single-sperm analysis. A recombination fraction of approximately 0.9% was calculated across an approximately 11 kb region using a new method to estimate recombination fractions from single-sperm typing data. No recombination was ...

journal_title：Human molecular genetics

authors： Schneider JA,Peto TE,Boone RA,Boyce AJ,Clegg JB

更新日期：2002-02-01 00:00:00

abstract：:We have studied 21 families with Wilson disease (WND), using restriction fragment length polymorphisms (RFLPs) in the 13q14.3 region, to measure linkage of these markers to the disease locus. In addition to previously described markers, we include linkage data for a newly isolated marker (D13S86) and an established ma...

journal_title：Human molecular genetics

authors： Thomas GR,Roberts EA,Rosales TO,Moroz SP,Lambert MA,Wong LT,Cox DW

更新日期：1993-09-01 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：:We studied the association between common haplotypes in six relevant lipid metabolism genes with plasma lipid levels. We selected single-nucleotide polymorphisms (SNPs) in the cholesterol ester transfer protein (CETP), lipoprotein lipase (LPL), hepatic triglyceride lipase (HL), low-density lipoprotein cholesterol rece...

journal_title：Human molecular genetics

authors： Knoblauch H,Bauerfeind A,Krähenbühl C,Daury A,Rohde K,Bejanin S,Essioux L,Schuster H,Luft FC,Reich JG

更新日期：2002-06-01 00:00:00

abstract：:The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chro...

journal_title：Human molecular genetics

authors： Koumbaris G,Hatzisevastou-Loukidou H,Alexandrou A,Ioannides M,Christodoulou C,Fitzgerald T,Rajan D,Clayton S,Kitsiou-Tzeli S,Vermeesch JR,Skordis N,Antoniou P,Kurg A,Georgiou I,Carter NP,Patsalis PC

更新日期：2011-05-15 00:00:00

abstract：:We recently reported increased mitochondrial fission and decreased fusion, increased amyloid beta (Aβ) interaction with the mitochondrial fission protein Drp1, increased mitochondrial fragmentation, impaired axonal transport of mitochondria and synaptic degeneration in neurons affected by AD. In the present study, we ...

journal_title：Human molecular genetics

authors： Manczak M,Reddy PH

更新日期：2012-06-01 00:00:00

abstract：:Bloom's syndrome (BS) is an autosomal recessive disorder that is invariably characterized by severe growth retardation and cancer predisposition. The Bloom's syndrome helicase (BLM), mutations of which lead to BS, localizes to promyelocytic leukemia protein bodies and to the nucleolus of the cell, the site of RNA poly...

journal_title：Human molecular genetics

authors： Grierson PM,Lillard K,Behbehani GK,Combs KA,Bhattacharyya S,Acharya S,Groden J

更新日期：2012-03-01 00:00:00

abstract：:Andersen's syndrome (AS) is a rare and dominantly inherited pathology, linked to the inwardly rectifying potassium channel Kir2.1. AS patients exhibit a triad of symptoms that include periodic paralysis, cardiac dysrhythmia and bone malformations. Some progress has been made in understanding the contribution of the Ki...

journal_title：Human molecular genetics

authors： Sacco S,Giuliano S,Sacconi S,Desnuelle C,Barhanin J,Amri EZ,Bendahhou S

更新日期：2015-01-15 00:00:00