Glutaredoxin deficiency exacerbates neurodegeneration in C. elegans models of Parkinson's disease.

abstract：:Advances in information technology (IT) hardware in the last decade have led to the advent of small connected devices broadly referred to as the Internet of Things (IoT). The IoT and its subcategory of wearable devices (wearables) both have the potential to greatly impact biomedical research. This focused review cover...

journal_title：Human molecular genetics

authors： Talboom JS,Huentelman MJ

更新日期：2018-05-01 00:00:00

abstract：:Muscular dystrophies are a group of genetic diseases that lead to muscle wasting and, in most cases, premature death. Cytokines and inflammatory factors are released during the disease process where they promote deleterious signaling events that directly participate in myofiber death. Here, we show that p38α, a kinase...

journal_title：Human molecular genetics

authors： Wissing ER,Boyer JG,Kwong JQ,Sargent MA,Karch J,McNally EM,Otsu K,Molkentin JD

更新日期：2014-10-15 00:00:00

abstract：:Inherited peripheral neuropathies are a heterogeneous group of disorders that can affect patients of all ages. Children with inherited neuropathy often develop severe disability, but the genetic causes of recessive early-onset axonal neuropathies are not fully known. We have taken a whole-exome sequencing approach to ...

journal_title：Human molecular genetics

authors： Ylikallio E,Pöyhönen R,Zimon M,De Vriendt E,Hilander T,Paetau A,Jordanova A,Lönnqvist T,Tyynismaa H

更新日期：2013-08-01 00:00:00

abstract：:Peroxisome biogenesis disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease, are lethal hereditary diseases caused by abnormalities in peroxisomal assembly. To date, 12 genotypes have been identified. We now have evidence that the complete human cDNA encoding P...

journal_title：Human molecular genetics

authors： Shimozawa N,Suzuki Y,Zhang Z,Imamura A,Toyama R,Mukai S,Fujiki Y,Tsukamoto T,Osumi T,Orii T,Wanders RJ,Kondo N

更新日期：1999-06-01 00:00:00

abstract：:Ryanodine receptor type I (RYR1)-related myopathies (RYR1 RM) are a clinically and histopathologically heterogeneous group of conditions that represent the most common subtype of childhood onset non-dystrophic muscle disorders. There are no treatments for this severe group of diseases. A major barrier to therapy devel...

journal_title：Human molecular genetics

authors： Brennan S,Garcia-Castañeda M,Michelucci A,Sabha N,Malik S,Groom L,Wei LaPierre L,Dowling JJ,Dirksen RT

更新日期：2019-09-15 00:00:00

abstract：:Cytoglobin (CYGB) is frequently downregulated in many types of human malignancies, and its exogenous overexpression reduces proliferation of cancer cells. Despite its implied tumour suppressor (TSG) functions, its exact role in carcinogenesis remains unclear as CYGB upregulation is also associated with tumour hypoxia ...

journal_title：Human molecular genetics

authors： Oleksiewicz U,Liloglou T,Tasopoulou KM,Daskoulidou N,Bryan J,Gosney JR,Field JK,Xinarianos G

更新日期：2013-08-15 00:00:00

abstract：:Periodontitis is a widespread, complex inflammatory disease of the mouth, which results in a loss of gingival tissue and alveolar bone, with aggressive periodontitis (AgP) as its most severe form. To identify genetic risk factors for periodontitis, we conducted a genome-wide association study in German AgP patients. W...

journal_title：Human molecular genetics

authors： Schaefer AS,Richter GM,Nothnagel M,Manke T,Dommisch H,Jacobs G,Arlt A,Rosenstiel P,Noack B,Groessner-Schreiber B,Jepsen S,Loos BG,Schreiber S

更新日期：2010-02-01 00:00:00

abstract：:Meta-analysis of genome-wide association studies has resulted in the identification of hundreds of genetic variants associated with growth and stature. Determining how these genetic variants influence growth is important, but most are non-coding, and there is little understanding of how these variants contribute to ad...

journal_title：Human molecular genetics

authors： Schierding W,Antony J,Cutfield WS,Horsfield JA,O'Sullivan JM

更新日期：2016-08-01 00:00:00

abstract：:Genome-wide association studies have identified susceptibility loci for esophageal squamous cell carcinoma (ESCC). We conducted a meta-analysis of all single-nucleotide polymorphisms (SNPs) that showed nominally significant P-values in two previously published genome-wide scans that included a total of 2961 ESCC cases...

journal_title：Human molecular genetics

authors： Abnet CC,Wang Z,Song X,Hu N,Zhou FY,Freedman ND,Li XM,Yu K,Shu XO,Yuan JM,Zheng W,Dawsey SM,Liao LM,Lee MP,Ding T,Qiao YL,Gao YT,Koh WP,Xiang YB,Tang ZZ,Fan JH,Chung CC,Wang C,Wheeler W,Yeager M,Yuenger

更新日期：2012-05-01 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：:Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Although the mutant protein is widely expressed, the earliest and most striking neuropathological changes are observed in the striatum. Here we show dramatic mutation length increases (gai...

journal_title：Human molecular genetics

authors： Kennedy L,Evans E,Chen CM,Craven L,Detloff PJ,Ennis M,Shelbourne PF

更新日期：2003-12-15 00:00:00

abstract：:Myelin sheath thickness is precisely regulated and essential for rapid propagation of action potentials along myelinated axons. In the peripheral nervous system, extrinsic signals from the axonal protein neuregulin 1 (NRG1) type III regulate Schwann cell fate and myelination. Here we ask if modulating NRG1 type III le...

journal_title：Human molecular genetics

authors： Belin S,Ornaghi F,Shackleford G,Wang J,Scapin C,Lopez-Anido C,Silvestri N,Robertson N,Williamson C,Ishii A,Taveggia C,Svaren J,Bansal R,Schwab MH,Nave K,Fratta P,D'Antonio M,Poitelon Y,Feltri ML,Wrabetz L

更新日期：2019-04-15 00:00:00

abstract：:The Menkes disease gene encodes a P-type transmembrane ATPase (ATP7A) that translocates cytosolic copper ions across intracellular membranes of compartments along the secretory pathway. ATP7A moves from the trans-Golgi network (TGN) to the cell surface in response to exogenously added copper ions and recycles back to ...

journal_title：Human molecular genetics

authors： Cobbold C,Coventry J,Ponnambalam S,Monaco AP

更新日期：2003-07-01 00:00:00

abstract：:The internal structure of different alleles of the minisatellite present at the 3' end of the apolipoprotein B (ApoB) gene has been analysed by different approaches including sequencing. The repeat unit arrangements of the minisatellite on 570 chromosomes belonging to European and African populations were thus determi...

journal_title：Human molecular genetics

authors： Buresi C,Desmarais E,Vigneron S,Lamarti H,Smaoui N,Cambien F,Roizes G

更新日期：1996-01-01 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：:ARHI has been identified as a maternally imprinted tumor suppressor gene that maps to chromosome 1p31 and whose expression is markedly down-regulated in breast cancer. To explore possible mechanisms that could silence ARHI expression, we have tested the importance of DNA methylation, histone acetylation and histone me...

journal_title：Human molecular genetics

authors： Fujii S,Luo RZ,Yuan J,Kadota M,Oshimura M,Dent SR,Kondo Y,Issa JP,Bast RC Jr,Yu Y

更新日期：2003-08-01 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：: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：:Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of Survival Motor Neuron-1 (SMN1). The clinical features of the disease are caused by specific degeneration of alpha-motor neurons in the spinal c...

journal_title：Human molecular genetics

authors： Lorson CL,Rindt H,Shababi M

更新日期：2010-04-15 00:00:00

abstract：:Accumulating data suggest a link between alterations/deficiencies in cytoskeletal proteins and the progression of cardiomyopathy and heart failure, although the molecular basis for this link remains unclear. Cypher/ZASP is a cytoskeletal protein localized in the sarcomeric Z-line. Mutations in its encoding gene have b...

journal_title：Human molecular genetics

authors： Zheng M,Cheng H,Li X,Zhang J,Cui L,Ouyang K,Han L,Zhao T,Gu Y,Dalton ND,Bang ML,Peterson KL,Chen J

更新日期：2009-02-15 00:00:00

abstract：:Single-nucleotide polymorphism (SNP) tagging is widely used as a way of saving genotyping costs in association studies. A number of different tagging methods have been developed to reduce the number of markers to be genotyped while maintaining power for detecting effects on non-assayed SNPs. How the different methods ...

journal_title：Human molecular genetics

authors： Ke X,Miretti MM,Broxholme J,Hunt S,Beck S,Bentley DR,Deloukas P,Cardon LR

更新日期：2005-09-15 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：:Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease due to a CAG triplet-repeat expansion in the androgen receptor (AR) gene, which is translated into an elongated polyglutamine (polyQ) tract in AR protein (ARpolyQ). ARpolyQ toxicity is activated by the AR ligand testosterone (or dihydrotestost...

journal_title：Human molecular genetics

authors： Giorgetti E,Rusmini P,Crippa V,Cristofani R,Boncoraglio A,Cicardi ME,Galbiati M,Poletti A

更新日期：2015-01-01 00:00:00

abstract：:CREB-binding protein (CBP, CREBBP, KAT3A) and its closely related paralogue p300 (EP300, KAT3B), together termed p300/CBP, are histone/lysine acetyl-transferases that control gene expression by modifying chromatin-associated proteins. Here, we report roles for both of these chromatin-modifying enzymes in mouse sex det...

journal_title：Human molecular genetics

authors： Carré GA,Siggers P,Xipolita M,Brindle P,Lutz B,Wells S,Greenfield A

更新日期：2018-01-01 00:00:00

abstract：:Mutations of the thyroid hormone receptor α gene (THRA) cause hypothyroidism in patients with growth and developmental retardation, and skeletal dysplasia. Genetic evidence indicates that the dominant negative activity of TRα1 mutants underlies pathological manifestations. Using a mouse model of hypothyroidism caused ...

journal_title：Human molecular genetics

authors： Kim DW,Park JW,Willingham MC,Cheng SY

更新日期：2014-05-15 00:00:00

abstract：:Mutations in the MYOC gene may lead to juvenile open-angle glaucoma with high intraocular pressure, and are detected in about 4% of people with adult onset glaucoma. Most of these mutations are found in the third exon of the gene encoding the olfactomedin-like domain located at the C terminus of the protein. Another o...

journal_title：Human molecular genetics

authors： Torrado M,Trivedi R,Zinovieva R,Karavanova I,Tomarev SI

更新日期：2002-05-15 00:00:00

abstract：:Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progressive nature and cell-selective aspects of HD pathogenesis. Results f...

journal_title：Human molecular genetics

authors： Shelbourne PF,Keller-McGandy C,Bi WL,Yoon SR,Dubeau L,Veitch NJ,Vonsattel JP,Wexler NS,US-Venezuela Collaborative Research Group.,Arnheim N,Augood SJ

更新日期：2007-05-15 00:00:00

abstract：:Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are among the most common motor neuron diseases to afflict the human population. A deficiency of the survival of motor neuron (SMN) protein causes SMA and is also reported to be an exacerbating factor in the development of ALS. However, pathways lin...

journal_title：Human molecular genetics

authors： Kariya S,Re DB,Jacquier A,Nelson K,Przedborski S,Monani UR

更新日期：2012-08-01 00:00:00

abstract：:The X-linked reproductive homeobox (RHOX) gene cluster encodes transcription factors preferentially expressed in reproductive tissues. This gene cluster has important roles in male fertility based on phenotypic defects of Rhox-mutant mice and the finding that aberrant RHOX promoter methylation is strongly associated w...

journal_title：Human molecular genetics

authors： Borgmann J,Tüttelmann F,Dworniczak B,Röpke A,Song HW,Kliesch S,Wilkinson MF,Laurentino S,Gromoll J

更新日期：2016-11-15 00:00:00

abstract：:Gelsolin amyloidosis is a dominantly inherited, incurable type of amyloidosis. A single point mutation in the gelsolin gene (G654A is most common) results in the loss of a Ca2+  binding site in the second gelsolin domain. Consequently, this domain partly unfolds and exposes an otherwise buried furin cleavage site at t...

journal_title：Human molecular genetics

authors： Verhelle A,Nair N,Everaert I,Van Overbeke W,Supply L,Zwaenepoel O,Peleman C,Van Dorpe J,Lahoutte T,Devoogdt N,Derave W,Chuah MK,VandenDriessche T,Gettemans J

更新日期：2017-04-01 00:00:00