Transthyretin mutations in health and disease.

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：:Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low-density cholesterol modulation. Potential interaction between APO...

journal_title：Human mutation

authors： McKay GJ,Patterson CC,Chakravarthy U,Dasari S,Klaver CC,Vingerling JR,Ho L,de Jong PT,Fletcher AE,Young IS,Seland JH,Rahu M,Soubrane G,Tomazzoli L,Topouzis F,Vioque J,Hingorani AD,Sofat R,Dean M,Sawitzke J,Seddon

更新日期：2011-12-01 00:00:00

abstract：:Autosomal recessive limb gird muscular dystrophy (LGMD2) is a clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of the proximal limb muscles. At least eight genetic loci leading to LGMD2 are recognized. The proportion of particular gene involved in pr...

journal_title：Human mutation

authors： Pogoda TV,Krakhmaleva IN,Lipatova NA,Shakhovskaya NI,Shishkin SS,Limborska SA

更新日期：2000-03-01 00:00:00

abstract：:Recent advances in fluorescent dyes, methods, instruments and software for DNA melting analysis have created versatile new tools for variant scanning and genotyping. High resolution melting analysis (HRM or HRMA) is faster, simpler, and less expensive than alternative approaches requiring separations or labeled probes...

journal_title：Human mutation

authors： Wittwer CT

更新日期：2009-06-01 00:00:00

abstract：:Bardet Biedl syndrome is a genetically heterogeneous ciliopathy with fourteen genes currently identified. To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively. We sequenced the coding regions of BBS7 and TTC8 in 35 BBS families of diverse ancestral backgrounds. In addi...

journal_title：Human mutation

authors： Bin J,Madhavan J,Ferrini W,Mok CA,Billingsley G,Héon E

更新日期：2009-07-01 00:00:00

abstract：:The Centre for Applied Genomics of the Hospital for Sick Children and the University of Toronto hosted the 10th Human Genome Variation (HGV) Meeting in Toronto, Canada, in October 2008, welcoming about 240 registrants from 34 countries. During the 3 days of plenary workshops, keynote address, and poster sessions, a st...

journal_title：Human mutation

authors： Brookes AJ,Chanock SJ,Hudson TJ,Peltonen L,Abecasis G,Kwok PY,Scherer SW

更新日期：2009-07-01 00:00:00

abstract：:We sought to examine the role of genetics in the multifactorial disease, abdominal aortic aneurysm (AAA), by studying sequence variation in the BAK1 gene (BAK1) that codes for an apoptotic-promoting protein, as chronic apoptosis activation has been linked to AAA development and progression. BAK1 abdominal aorta cDNA f...

journal_title：Human mutation

authors： Gottlieb B,Chalifour LE,Mitmaker B,Sheiner N,Obrand D,Abraham C,Meilleur M,Sugahara T,Bkaily G,Schweitzer M

更新日期：2009-07-01 00:00:00

abstract：:Although hamartomatous or hyperplastic polyps are rarely accompanied by adenomatous or carcinomatous foci, the role of APC (MIM# 175100) mutations in these polyps is not clear. The neoplastic potential of these polyps was assessed with regard to somatic mutation of the first 14 exons of APC. DNA from 14 hamartomatous ...

journal_title：Human mutation

authors： Kim JC,Roh SA,Kim HC,Yu CS,Lee DH,Ahn BY,Kim KM,Yang SK,Kang GH,Beck NE,Bodmer WF

更新日期：1999-10-01 00:00:00

abstract：:Cystic fibrosis (CF), the most common life-threatening genetic disease in Caucasians, is caused by ∼2,000 different mutations in the CF transmembrane conductance regulator (CFTR) gene. A significant fraction of these (∼13%) affect pre-mRNA splicing for which novel therapies have been somewhat neglected. We have previo...

journal_title：Human mutation

authors： Igreja S,Clarke LA,Botelho HM,Marques L,Amaral MD

更新日期：2016-02-01 00:00:00

abstract：:Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme. Detection of ARSB pathogenic variants can independently confirm diagnosis and render genetic co...

journal_title：Human mutation

authors： Tomanin R,Karageorgos L,Zanetti A,Al-Sayed M,Bailey M,Miller N,Sakuraba H,Hopwood JJ

更新日期：2018-12-01 00:00:00

abstract：:Dyskerin (encoded by the DKC1 locus) is the pseudouridine synthase responsible for the modification of noncoding RNA. Dyskerin is also an obligate member of the telomerase enzyme, and participates in the biogenesis of telomerase. Genetic lesions at the DKC1 locus are associated with X-linked dyskeratosis congenita (X-...

journal_title：Human mutation

authors： Thumati NR,Zeng XL,Au HH,Jang CJ,Jan E,Wong JM

更新日期：2013-12-01 00:00:00

abstract：:Voltage-gated sodium channels are pore-forming transmembrane proteins that selectively allow sodium ions to flow across the plasma membrane according to the electro-chemical gradient thus mediating the rising phase of action potentials in excitable cells and playing key roles in physiological processes such as neurotr...

journal_title：Human mutation

authors： Hinard V,Britan A,Schaeffer M,Zahn-Zabal M,Thomet U,Rougier JS,Bairoch A,Abriel H,Gaudet P

更新日期：2017-05-01 00:00:00

abstract：:Understanding the evolution of disease-associated mutations is fundamental to analyze pathogenetics of diseases. Mutation, recombination (by GC-biased gene conversion, gBGC), and selection have been known to shape the evolution of disease-associated mutations, but how these evolutionary forces work together is still a...

journal_title：Human mutation

authors： Xue C,Chen H,Yu F

更新日期：2016-11-01 00:00:00

abstract：:Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, tw...

journal_title：Human mutation

authors： Grigelioniené G,Hagenäs L,Eklöf O,Neumeyer L,Haereid PE,Anvret M

更新日期：1998-01-01 00:00:00

abstract：:Microsatellite instability (MSI) is a hallmark of the DNA replication error phenotype, due to the inactivation of mismatch repair genes. MSI has been implicated in colon and many other gastrointestinal cancers. MSI usually can be analyzed by PCR amplification of microsatellite markers followed by electrophoresis and d...

journal_title：Human mutation

authors： Pan KF,Liu W,Lu YY,Zhang L,Li ZP,Lu WL,Thibodeau SN,You WC

更新日期：2003-11-01 00:00:00

abstract：:A subset of a larger and heterogeneous class of disorders, the congenital myasthenic syndromes (CMS) are caused by pathogenic variants in genes encoding proteins that support the integrity and function of the neuromuscular junction (NMJ). A central component of the NMJ is the sodium-dependent high-affinity choline tra...

journal_title：Human mutation

authors： Banerjee M,Arutyunov D,Brandwein D,Janetzki-Flatt C,Kolski H,Hume S,Leonard NJ,Watt J,Lacson A,Baradi M,Leslie EM,Cordat E,Caluseriu O

更新日期：2019-10-01 00:00:00

abstract：:Sotos syndrome is a human developmental and cognitive disorder caused by happloinsufficiency of transcription factor NSD1. Similar phenotypes arise from NSD1 gene deletion or from point mutations in 9 of 13 NSD1 domains, including all 6 PHD domains, indicating that each NSD1 domain performs an essential role. To gain ...

journal_title：Human mutation

authors： Pasillas MP,Shah M,Kamps MP

更新日期：2011-03-01 00:00:00

abstract：:The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of this amino acid is distant, however, from presumptive catalytic site(s) ...

journal_title：Human mutation

authors： Lai K,Langley SD,Dembure PP,Hjelm LN,Elsas LJ 2nd

更新日期：1998-01-01 00:00:00

abstract：:Flap endonuclease 1 (FEN1) is a key enzyme in maintaining genomic stability and protecting against carcinogenesis. This study investigated whether functional variations in FEN1 gene are associated with DNA damage and lung cancer risk. Thirty DNA samples were sequenced to identify variants and function of the variants ...

journal_title：Human mutation

authors： Yang M,Guo H,Wu C,He Y,Yu D,Zhou L,Wang F,Xu J,Tan W,Wang G,Shen B,Yuan J,Wu T,Lin D

更新日期：2009-09-01 00:00:00

abstract：:A tiling X-chromosome-specific genomic array with a theoretical resolution of 80 kb was developed to screen patients with idiopathic mental retardation (MR) for submicroscopic copy number differences. Four patients with aberrations previously detected at lower resolution were first analyzed. This facilitated delineati...

journal_title：Human mutation

authors： Froyen G,Van Esch H,Bauters M,Hollanders K,Frints SG,Vermeesch JR,Devriendt K,Fryns JP,Marynen P

更新日期：2007-10-01 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：:The p.Val754Met variant, described in 1996 in a CF patient, has been considered a CF mutation. However, biochemical aspects, results of functional studies and, finally, the identification of a complex deletion removing exons 3 to 10 and 14b to 16 in cis of p.Val754Met in a CF patient, argue against a strong deleteriou...

journal_title：Human mutation

authors： Niel F,Legendre M,Bienvenu T,Bieth E,Lalau G,Sermet I,Bondeux D,Boukari R,Derelle J,Levy P,Ruszniewski P,Martin J,Costa C,Goossens M,Girodon E

更新日期：2006-07-01 00:00:00

abstract：:Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO). We performed whole-exome and Sanger sequencing to identify suspected causative variants in 414 idiopathic participating infertile men with SO or azoospermia. Three novel homo...

journal_title：Human mutation

authors： Hu TY,Zhang H,Meng LL,Yuan SM,Tu CF,Du J,Lu GX,Lin G,Nie HC,Tan YQ

更新日期：2020-11-10 00:00:00

abstract：:The penetrance of the p.[Met694Val];[Met694Val] genotype of pyrin in adult familial Mediterranean fever (FMF) patients is close to 100%. Disease penetrance of the p.[Met694Val];[Glu148Gln] genotype (M694V/E148Q), and the heterozygous p.[Met694Val];[=] genotype is unknown. A difference in the penetrance of the latter t...

journal_title：Human mutation

authors： Eyal O,Shinar Y,Pras M,Pras E

更新日期：2020-11-01 00:00:00

abstract：:Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal-recess...

journal_title：Human mutation

authors： Yang CF,Wang CH,Siong H'ng W,Chang CP,Lin WD,Chen YT,Wu JY,Tsai FJ

更新日期：2017-05-01 00:00:00

abstract：:Influenza-associated encephalopathy (IAE) is characterized by persistent high fever, febrile convulsions, severe brain edema, and high mortality in otherwise apparently healthy individuals. We have reported that a large proportion of patients suffering from disabling or fatal IAE, with transiently elevated serum acylc...

journal_title：Human mutation

authors： Yao D,Mizuguchi H,Yamaguchi M,Yamada H,Chida J,Shikata K,Kido H

更新日期：2008-05-01 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：:Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering ...

journal_title：Human mutation

authors： Cvačková Z,Matějů D,Staněk D

更新日期：2014-03-01 00:00:00

abstract：:Biomedical data sharing is desirable, but problematic. Data "discovery" approaches-which establish the existence rather than the substance of data-precisely connect data owners with data seekers, and thereby promote data sharing. Cafe Variome (http://www.cafevariome.org) was therefore designed to provide a general-pur...

journal_title：Human mutation

authors： Lancaster O,Beck T,Atlan D,Swertz M,Thangavelu D,Veal C,Dalgleish R,Brookes AJ

更新日期：2015-10-01 00:00:00

abstract：:MSeqDR is the Mitochondrial Disease Sequence Data Resource, a centralized and comprehensive genome and phenome bioinformatics resource built by the mitochondrial disease community to facilitate clinical diagnosis and research investigations of individual patient phenotypes, genomes, genes, and variants. A central Web ...

journal_title：Human mutation

authors： Shen L,Diroma MA,Gonzalez M,Navarro-Gomez D,Leipzig J,Lott MT,van Oven M,Wallace DC,Muraresku CC,Zolkipli-Cunningham Z,Chinnery PF,Attimonelli M,Zuchner S,Falk MJ,Gai X

更新日期：2016-06-01 00:00:00