Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.

abstract：:The hormonal etiology of breast cancer is well-established. Many studies have assessed whether polymorphisms in steroid hormone metabolism genes are associated with breast cancer risk. We measured the CYP17A1 -34T>C (c.-34T>C) promoter polymorphism in a population-based study of 1,404 Australian women with breast canc...

journal_title：Human mutation

authors： Hopper JL,Hayes VM,Spurdle AB,Chenevix-Trench G,Jenkins MA,Milne RL,Dite GS,Tesoriero AA,McCredie MR,Giles GG,Southey MC

更新日期：2005-10-01 00:00:00

abstract：:Allelic imbalance (AI) is a powerful tool to identify cis-regulatory variation for gene expression. UGT2B15 is an important enzyme involved in the metabolism of multiple endobiotics and xenobiotics. In this study, we measured the relative expression of two alleles at this gene by using SNP rs1902023:G>T. An excess of ...

journal_title：Human mutation

authors： Sun C,Southard C,Witonsky DB,Olopade OI,Di Rienzo A

更新日期：2010-01-01 00:00:00

abstract：:The NAGLU challenge of the fourth edition of the Critical Assessment of Genome Interpretation experiment (CAGI4) in 2016, invited participants to predict the impact of variants of unknown significance (VUS) on the enzymatic activity of the lysosomal hydrolase α-N-acetylglucosaminidase (NAGLU). Deficiencies in NAGLU ac...

journal_title：Human mutation

authors： Clark WT,Kasak L,Bakolitsa C,Hu Z,Andreoletti G,Babbi G,Bromberg Y,Casadio R,Dunbrack R,Folkman L,Ford CT,Jones D,Katsonis P,Kundu K,Lichtarge O,Martelli PL,Mooney SD,Nodzak C,Pal LR,Radivojac P,Savojardo C,Shi

更新日期：2019-09-01 00:00:00

abstract：:We have developed an assay for allele-specific determination of low-density lipoprotein receptor (LDLR) mRNAs. Transcript levels are measured by reverse transcription (RT), PCR, and electrophoresis on an automatic DNA sequencer using fluorescence-labeled primers and direct quantitation of the allele-specific RT-PCR pr...

journal_title：Human mutation

authors： Jensen LG,Jensen HK,Heath F,Eiberg H,Kjeldsen M,Faergeman O,Kølvraa S,Bolund L,Gregersen N

更新日期：1996-01-01 00:00:00

abstract：:Phosphoglycerate kinase (PGK) is a X-linked enzyme that plays a key role in the glycolytic pathway. Twelve different variants have already been reported. We describe a new PGK variant, PGK Herlev (Asp 285-->Val), in a 69-year-old Danish patient with isolated chronic hemolysis but who had no neurological or muscular di...

journal_title：Human mutation

authors： Valentin C,Birgens H,Craescu CT,Brødum-Nielsen K,Cohen-Solal M

更新日期：1998-01-01 00:00:00

abstract：:The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of plasma samples followed by immunoblotting. The frequency of apo A-IV alleles was f(A-IV1) = 0.95, f(A-IV2) = 0.039 and f(A-IV3) = 0.002. This frequency distribution is significant...

journal_title：Human mutation

authors： Menzel HJ,Dieplinger H,Sandholzer C,Karádi I,Utermann G,Császár A

更新日期：1995-01-01 00:00:00

abstract：:Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is exemplified by the short rib-polydactyly syndromes, Jeune, Sensenbrenner, and Mainzer-Saldino chondrodysplasia syndromes. These three syndromes are frequently caused by m...

journal_title：Human mutation

authors： Schmidts M,Frank V,Eisenberger T,Al Turki S,Bizet AA,Antony D,Rix S,Decker C,Bachmann N,Bald M,Vinke T,Toenshoff B,Di Donato N,Neuhann T,Hartley JL,Maher ER,Bogdanović R,Peco-Antić A,Mache C,Hurles ME,Joksić I,G

更新日期：2013-05-01 00:00:00

abstract：:Recessively inherited limb girdle muscular dystrophy (LGMD) type 2A is the most common LGMD worldwide. Here, we report the first single missense variant in CAPN3 causing dominantly inherited calpainopathy. A 43-year-old proband, his father and two sons were heterozygous for a c.1715G>C p.(Arg572Pro) variant in CAPN3. ...

journal_title：Human mutation

authors： Vissing J,Dahlqvist JR,Roudaut C,Poupiot J,Richard I,Duno M,Krag T

更新日期：2020-09-01 00:00:00

abstract：:Hereditary hemorrhagic telangiectasia type 1 (HHT1) is a vascular dysplasia caused by mutations in the endoglin (ENG) gene and associated with epistaxis, telangiectases, and a high incidence of pulmonary arteriovenous malformations. To efficiently detect deletions and insertions, we optimized a quantitative multiplex ...

journal_title：Human mutation

authors： Cymerman U,Vera S,Karabegovic A,Abdalla S,Letarte M

更新日期：2003-05-01 00:00:00

abstract：:Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this locus is associated ...

journal_title：Human mutation

authors： Azzi S,Steunou V,Rousseau A,Rossignol S,Thibaud N,Danton F,Le Jule M,Gicquel C,Le Bouc Y,Netchine I

更新日期：2011-02-01 00:00:00

abstract：:Hereditary fructose intolerance (HFI) is an autosomal recessive metabolic disease caused by impaired functioning of human liver aldolase (ALDOB). At least 54 subtle/point mutations and only two large intragenic deletions have been found in the ALDOB gene. Here we report two novel ALDOB variants (p.R46W and p.Y343H) an...

journal_title：Human mutation

authors： Esposito G,Imperato MR,Ieno L,Sorvillo R,Benigno V,Parenti G,Parini R,Vitagliano L,Zagari A,Salvatore F

更新日期：2010-12-01 00:00:00

abstract：:DiGeorge (del22q11.2) syndrome is estimated to occur in 1:4,000 births, is the most common contiguous-gene deletion syndrome in humans, and is caused by autosomal dominant deletions in the 22q11.2 DiGeorge syndrome critical region (DGCR). Multiple microarray methods have been developed recently for analyzing such copy...

journal_title：Human mutation

authors： Stanczak CM,Chen Z,Nelson SF,Suchard M,McCabe ER,McGhee S

更新日期：2008-01-01 00:00:00

abstract：:The detection of mutations in large and complex genes represents a practical challenge in research and diagnostic laboratories. Available methods are either time-consuming or lack sensitivity. Mutation detection in the factor VIII gene, responsible for haemophilia A, is hampered by its large size, its many exons, and ...

journal_title：Human mutation

authors： Freson K,Peerlinck K,Aguirre T,Arnout J,Vermylen J,Cassiman JJ,Matthijs G

更新日期：1998-01-01 00:00:00

abstract：:XRCC2 genetic variants have been associated with breast cancer susceptibility. However, association studies have been complicated because XRCC2 variants are extremely rare and consist mainly of amino acid substitutions whose grouping is sensitive to misclassification by the predictive algorithms. We therefore function...

journal_title：Human mutation

authors： Hilbers FS,Luijsterburg MS,Wiegant WW,Meijers CM,Völker-Albert M,Boonen RA,van Asperen CJ,Devilee P,van Attikum H

更新日期：2016-09-01 00:00:00

abstract：:The aim of this study was to identify mutations in the lipoprotein lipase (LPL) gene in 20 unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the genotype/phenotype relationship. The previously reported G188E mutation (Monsalve et al., J Clin Invest 86:728-734, 1990) was screened for and...

journal_title：Human mutation

authors： Mailly F,Palmen J,Muller DP,Gibbs T,Lloyd J,Brunzell J,Durrington P,Mitropoulos K,Betteridge J,Watts G,Lithell H,Angelico F,Humphries SE,Talmud PJ

更新日期：1997-01-01 00:00:00

abstract：:Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial components of the cone phototransduction cascade (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) or in ATF6, ...

journal_title：Human mutation

authors： Mayer AK,Van Cauwenbergh C,Rother C,Baumann B,Reuter P,De Baere E,Wissinger B,Kohl S,ACHM Study Group.

更新日期：2017-11-01 00:00:00

abstract：:Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS. Useful genotype-phenotype correlations have been slow to emerge. We screened 57 unrelated ...

journal_title：Human mutation

authors： Biggin A,Holman K,Brett M,Bennetts B,Adès L

更新日期：2004-01-01 00:00:00

abstract：:MUSK encodes the muscle-specific receptor tyrosine kinase (MuSK), a key component of the agrin-LRP4-MuSK-DOK7 signaling pathway, which is essential for the formation and maintenance of highly specialized synapses between motor neurons and muscle fibers. We report a patient with severe early-onset congenital myasthenic...

journal_title：Human mutation

authors： Rodríguez Cruz PM,Cossins J,Cheung J,Maxwell S,Jayawant S,Herbst R,Waithe D,Kornev AP,Palace J,Beeson D

更新日期：2020-03-01 00:00:00

abstract：:The current study aimed to identify new breast and/or ovarian cancer predisposition genes. For that, whole-exome sequencing (WES) was performed in the germline DNA of 52 non-BRCA1/BRCA2/TP53 mutation carrier women at high-risk for hereditary breast and ovarian cancer (HBOC). All variants were classified using informat...

journal_title：Human mutation

authors： Felicio PS,Grasel RS,Campacci N,de Paula AE,Galvão HCR,Torrezan GT,Sabato CS,Fernandes GC,Souza CP,Michelli RD,Andrade CE,Barros BDF,Matsushita MM,Revil T,Ragoussis J,Couch FJ,Hart SN,Reis RM,Melendez ME,Tonin PN,

更新日期：2020-12-16 00:00:00

abstract：:During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in development and/or function of the immune system. Among them is the JAK3-gene, encoding for a tyrosine kinase that is functionally coupled to cytokine receptors which...

journal_title：Human mutation

authors： Notarangelo LD,Mella P,Jones A,de Saint Basile G,Savoldi G,Cranston T,Vihinen M,Schumacher RF

更新日期：2001-10-01 00:00:00

abstract：:Study of two families containing individuals with nephrogenic diabetes insipidus (NDI) indicated different types of 21.3 kb and 26.3 kb deletions involving the AVPR2 and ARHGAP4 (RhoGAP C1) genes. In the case of the 21.3 kb deletion, the deletion consensus motif (5'-TGAAGG-3') and polypurine runs, known as the arrest ...

journal_title：Human mutation

authors： Demura M,Takeda Y,Yoneda T,Furukawa K,Usukura M,Itoh Y,Mabuchi H

更新日期：2002-01-01 00:00:00

abstract：:Mutation detection through exome sequencing allows simultaneous analysis of all coding sequences of genes. However, it cannot yet replace Sanger sequencing (SS) in diagnostics because of incomplete representation and coverage of exons leading to missing clinically relevant mutations. Targeted next-generation sequencin...

journal_title：Human mutation

authors： Sikkema-Raddatz B,Johansson LF,de Boer EN,Almomani R,Boven LG,van den Berg MP,van Spaendonck-Zwarts KY,van Tintelen JP,Sijmons RH,Jongbloed JD,Sinke RJ

更新日期：2013-07-01 00:00:00

abstract：:The 185delAG mutation (c.68_69delAG; ter39) in the BRCA1 gene is a founder Jewish Ashkenazi mutation that is carried by 1% of this population and has been identified in thousands of breast or ovarian cancer patients. We have previously described that transcripts bearing this mutation, as well as transcripts bearing th...

journal_title：Human mutation

authors： Buisson M,Anczuków O,Zetoune AB,Ware MD,Mazoyer S

更新日期：2006-10-01 00:00:00

abstract：:The Human Variome Project (HVP) is an international consortium of clinicians, geneticists, and researchers from over 30 countries, aiming to facilitate the establishment and maintenance of standards, systems, and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease....

journal_title：Human mutation

authors： Pan M,Cong P,Wang Y,Lin C,Yuan Y,Dong J,Banerjee S,Zhang T,Chen Y,Zhang T,Chen M,Hu P,Zheng S,Zhang J,Qi M

更新日期：2011-12-01 00:00:00

abstract：:Retinitis pigmentosa (RP) constitutes a major cause of blindness and the Retinitis Pigmentosa GTPase Regulator (RPGR) gene accounts for up to 80% of all X-linked RP cases. A novel isoform of RPGR, expressed in the human retina, was identified and characterized. It truncates the Regulator of Chromosome Condensation 1 (...

journal_title：Human mutation

authors： Neidhardt J,Glaus E,Barthelmes D,Zeitz C,Fleischhauer J,Berger W

更新日期：2007-08-01 00:00:00

abstract：:Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a diagnosis in many cases. We employed exome sequencing to identify the underlying molecular defects in patients with unresolved but puta...

journal_title：Human mutation

authors： Makrythanasis P,Nelis M,Santoni FA,Guipponi M,Vannier A,Béna F,Gimelli S,Stathaki E,Temtamy S,Mégarbané A,Masri A,Aglan MS,Zaki MS,Bottani A,Fokstuen S,Gwanmesia L,Aliferis K,Bustamante Eduardo M,Stamoulis G,Psoni S

更新日期：2014-10-01 00:00:00

abstract：:Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH poly...

journal_title：Human mutation

authors： Isidro G,Laranjeira F,Pires A,Leite J,Regateiro F,Castro e Sousa F,Soares J,Castro C,Giria J,Brito MJ,Medeira A,Teixeira R,Morna H,Gaspar I,Marinho C,Jorge R,Brehm A,Ramos JS,Boavida MG

更新日期：2004-10-01 00:00:00

abstract：:Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating b...

journal_title：Human mutation

authors： Indo Y

更新日期：2001-12-01 00:00:00

abstract：:We and others found two polymorphic LRRK2 (leucine-rich repeat kinase 2) variants (rs34778348:G>A; p.G2385R and rs33949390:G>C; p.R1628P) associated with Parkinson disease (PD) among Chinese patients, but the common worldwide rs34637584:G>A; p.G2019S mutation, was absent. Focusing exclusively on Han Chinese, we first ...

journal_title：Human mutation

authors： Tan EK,Peng R,Teo YY,Tan LC,Angeles D,Ho P,Chen ML,Lin CH,Mao XY,Chang XL,Prakash KM,Liu JJ,Au WL,Le WD,Jankovic J,Burgunder JM,Zhao Y,Wu RM

更新日期：2010-05-01 00:00:00

abstract：:Clinical, biochemical and molecular findings in a patient with methemoglobinemia type II are described. Furthermore, a comparison between methemoglobinemia type I and type II, both caused by a deficiency of NADH-cytochrome b5 reductase (b5R), is made. Although the clinical pictures of type I and II are strikingly diff...

journal_title：Human mutation

authors： Aalfs CM,Salieb-Beugelaar GB,Wanders RJ,Mannens MM,Wijburg FA

更新日期：2000-01-01 00:00:00