mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.

abstract：:The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of mutation detection...

journal_title：Human mutation

authors： Kimberling WJ

更新日期：2005-11-01 00:00:00

abstract：:Mutations in the Tyrosinase gene (TYR, 11q14-q21) cause oculocutaneous albinism type 1 (OCA1). The 3'-region of the TYR shows 98.55% sequence identity with a pseudogene, known as Tyrosinase-Like Gene (TYRL, 11p11.2-cen). A large number of publicly available nucleotide variants of TYR in this region are same as the bas...

journal_title：Human mutation

authors： Chaki M,Mukhopadhyay A,Ray K

更新日期：2005-07-01 00:00:00

abstract：:Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype. Hum Mutat 14:181, 1999. Copyright 1999 W...

journal_title：Human mutation

authors： Cuevas JM,Espin s C,Millan JM,Sanchez F,Trujillo MJ,Ayuso C,Beneyto M,Najera C

更新日期：1999-01-01 00:00:00

abstract：:The correction of premature termination codons (PTCs) by agents that promote readthrough represents a promising emerging tool for the treatment of many genetic diseases. The efficiency of the treatment, however, varies depending on the stop codon itself and the amount of correctible transcripts related to the efficien...

journal_title：Human mutation

authors： Hinzpeter A,Aissat A,de Becdelièvre A,Bieth E,Sondo E,Martin N,Costes B,Costa C,Goossens M,Galietta LJ,Girodon E,Fanen P

更新日期：2013-02-01 00:00:00

abstract：:Pathogenic GFM1 variants have been linked to neurological phenotypes with or without liver involvement, but only a few cases have been reported in the literature. Here, we report clinical, biochemical, and neuroimaging findings from nine unrelated children carrying GFM1 variants, 10 of which were not previously report...

journal_title：Human mutation

authors： Barcia G,Rio M,Assouline Z,Zangarelli C,Gueguen N,Dumas VD,Marcorelles P,Schiff M,Slama A,Barth M,Hully M,de Lonlay P,Munnich A,Desguerre I,Bonnefont JP,Steffann J,Procaccio V,Boddaert N,Rötig A,Metodiev MD,Ruzzen

更新日期：2020-02-01 00:00:00

abstract：:Lynch syndrome (LS), the most common familial colon cancer, is associated with mismatch repair (MMR) malfunction. As mutation carriers inherit one normal and one defected MMR gene allele, cancer risk can be considered as limited amount of normal MMR gene product. How reductions in different MMR gene expressions affect...

journal_title：Human mutation

authors： Kansikas M,Kasela M,Kantelinen J,Nyström M

更新日期：2014-09-01 00:00:00

abstract：:Fcγ receptors are a family of cell-surface receptors that are expressed by a host of different innate and adaptive immune cells, and mediate inflammatory responses by binding the Fc portion of immunoglobulin G. In humans, five low-affinity receptors are encoded by the genes FCGR2A, FCGR2B, FCGR2C, FCGR3A, and FCGR3B, ...

journal_title：Human mutation

authors： Rahbari R,Zuccherato LW,Tischler G,Chihota B,Ozturk H,Saleem S,Tarazona-Santos E,Machado LR,Hollox EJ

更新日期：2017-04-01 00:00:00

abstract：:The 11th International Symposium on Mutations in the Genome was held on 6-10 June, 2011, in Santorini, Greece. Meeting participants described novel detection technologies, rapid advances in whole genome and whole-exome sequencing, but also highlighted the urgent need for the development of sequence variation databases...

journal_title：Human mutation

authors： Stavrou EF,Goriely A

更新日期：2012-10-01 00:00:00

abstract：:Most hereditary nonpolyposis colorectal cancer (HNPCC) patients inherit a defective allele of a mismatch repair (MMR) gene, usually MLH1 or MSH2, resulting in high levels of microsatellite instability (MSI-H) in the tumors. Presence of MSI in the normal tissues of mutation carriers has been controversial. Here we dire...

journal_title：Human mutation

authors： Coolbaugh-Murphy MI,Xu JP,Ramagli LS,Ramagli BC,Brown BW,Lynch PM,Hamilton SR,Frazier ML,Siciliano MJ

更新日期：2010-03-01 00:00:00

abstract：:Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which enc...

journal_title：Human mutation

authors： Ianzano L,Young EJ,Zhao XC,Chan EM,Rodriguez MT,Torrado MV,Scherer SW,Minassian BA

更新日期：2004-02-01 00:00:00

abstract：:Mouse phenotype data represents a valuable resource for the identification of disease-associated genes, especially where the molecular basis is unknown and there is no clue to the candidate gene's function, pathway involvement or expression pattern. However, until recently these data have not been systematically used ...

journal_title：Human mutation

authors： Chen CK,Mungall CJ,Gkoutos GV,Doelken SC,Köhler S,Ruef BJ,Smith C,Westerfield M,Robinson PN,Lewis SE,Schofield PN,Smedley D

更新日期：2012-05-01 00:00:00

abstract：:Cystic fibrosis (CF) is caused by mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) that codes for a cAMP-regulated chloride channel. The R347P is a missense mutation located within the first membrane spanning domain (MSD1) of the CFTR protein. This mutation occurs with an overal...

journal_title：Human mutation

authors： Varon R,Stuhrmann M,Macek M Jr,Kufardjieva A,Angelicheva D,Magdorf K,Jordanova A,Savov A,Wahn U,Macek M

更新日期：1995-01-01 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in many organs. Two genes responsible for TSC, TSC1 and TSC2, were recently identified. TSC1 and TSC2 encode the proteins hamartin and tuberin, respectively, and 337 different mutations have been reported in these genes thus...

journal_title：Human mutation

authors： Feng JH,Yamamoto T,Nanba E,Ninomiya H,Oka A,Ohno K

更新日期：2004-04-01 00:00:00

abstract：:Familial hypertrophic ventricular cardiomyopathy has been demonstrated to be associated with a number of mitochondrial DNA (mtDNA) mutations. A fibroblast cell line carrying a mutation in its mtDNA at position 9997 in the gene encoding tRNA glycine was obtained from a patient with hypertrophic cardiomyopathy. To demon...

journal_title：Human mutation

authors： Raha S,Merante F,Shoubridge E,Myint AT,Tein I,Benson L,Johns T,Robinson BH

更新日期：1999-01-01 00:00:00

abstract：:Genetic testing for mutations in high-risk cancer susceptibility genes often reveals missense substitutions that are not easily classified as pathogenic or neutral. Among the methods that can help in their classification are computational analyses. Predictions of pathogenic vs. neutral, or the probability that a varia...

journal_title：Human mutation

authors： Tavtigian SV,Greenblatt MS,Lesueur F,Byrnes GB,IARC Unclassified Genetic Variants Working Group.

更新日期：2008-11-01 00:00:00

abstract：:Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. M...

journal_title：Human mutation

authors： Tümer Z

更新日期：2013-03-01 00:00:00

abstract：:Protein C (PC) is a key regulator of blood clotting and inflammation. Its inherited deficiency is associated with venous thromboembolism, and recombinant activated PC is currently used to increase survival in severe sepsis. The molecular basis of inherited PC deficiency is heterogeneous. Due to its multiple physiologi...

journal_title：Human mutation

authors： Rovida E,Merati G,D'Ursi P,Zanardelli S,Marino F,Fontana G,Castaman G,Faioni EM

更新日期：2007-04-01 00:00:00

abstract：:The melanocortin 1 receptor (MC1R), a member of the G protein-coupled receptors superfamily, mediates the response to melanocortins and is currently the best-described contributor to normal pigment variation in humans. A remarkably large number of natural polymorphisms, or variants, of the MC1R gene have been identifi...

journal_title：Human mutation

authors： Gerstenblith MR,Goldstein AM,Fargnoli MC,Peris K,Landi MT

更新日期：2007-05-01 00:00:00

abstract：:The original article to which this Erratum refers was published in Human Mutation 36(6):593–598(DOI:10.1002/humu22795).The authors realized that a co-author, Nuria C. Bramswig, was left off of the title page of this article at the time of submission. This erratum serves to correct this error by including Dr. Bramswig ...

journal_title：Human mutation

authors： Sukalo M,Tilsen F,Kayserili H,Müller D,Tüysüz B,Ruddy DM,Wakeling E,Ørstavik KH,Bramswig NC,Snape KM,Trembath R,De Smedt M,van der Aa N,Skalej M,Mundlos S,Wuyts W,Southgate L,Zenker M

更新日期：2015-11-01 00:00:00

abstract：:Genetic heterogeneity presents a significant challenge for the identification of monogenic disease genes. Whole-exome sequencing generates a large number of candidate disease-causing variants and typical analyses rely on deleterious variants being observed in the same gene across several unrelated affected individuals...

journal_title：Human mutation

authors： Dand N,Schulz R,Weale ME,Southgate L,Oakey RJ,Simpson MA,Schlitt T

更新日期：2015-12-01 00:00:00

abstract：:Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. We describe a novel missense mutation in exon 6 causing the substitution of Asp335 by Val. In transient transfections no enzyme activity could be expressed from the arylsulfatase A cDNA carrying this mutation. Exa...

journal_title：Human mutation

authors： Hess B,Kafert S,Heinisch U,Wenger DA,Zlotogora J,Gieselmann V

更新日期：1996-01-01 00:00:00

abstract：:MED12 is a key component of the transcription-regulating Mediator complex. Specific missense and in-frame insertion/deletion mutations in exons 1 and 2 have been identified in uterine leiomyomas, breast tumors, and chronic lymphocytic leukemia. Here, we characterize the first MED12 5' end nonsense mutation (c.97G>T, p...

journal_title：Human mutation

authors： Heikkinen T,Kämpjärvi K,Keskitalo S,von Nandelstadh P,Liu X,Rantanen V,Pitkänen E,Kinnunen M,Kuusanmäki H,Kontro M,Turunen M,Mäkinen N,Taipale J,Heckman C,Lehti K,Mustjoki S,Varjosalo M,Vahteristo P

更新日期：2017-03-01 00:00:00

abstract：:Nuclear receptor subfamily 5 group A member 1/Steroidogenic factor 1 (NR5A1; SF-1; Ad4BP) mutations cause 46,XY disorders of sex development (DSD), with phenotypes ranging from developmentally mild (e.g., hypospadias) to severe (e.g., complete gonadal dysgenesis). The molecular mechanism underlying this spectrum is un...

journal_title：Human mutation

authors： Sreenivasan R,Ludbrook L,Fisher B,Declosmenil F,Knower KC,Croft B,Bird AD,Ryan J,Bashamboo A,Sinclair AH,Koopman P,McElreavey K,Poulat F,Harley VR

更新日期：2018-12-01 00:00:00

abstract：:The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases. Phenylalanine hydroxylase (PAH) deficiency was chosen to pilot development of the Working Group's standards and guidelines. A PAH variant curation ex...

journal_title：Human mutation

authors： Zastrow DB,Baudet H,Shen W,Thomas A,Si Y,Weaver MA,Lager AM,Liu J,Mangels R,Dwight SS,Wright MW,Dobrowolski SF,Eilbeck K,Enns GM,Feigenbaum A,Lichter-Konecki U,Lyon E,Pasquali M,Watson M,Blau N,Steiner RD,Craige

更新日期：2018-11-01 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：:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurological disease with mutations in SACS, encoding sacsin, a multidomain protein of 4,579 amino acids. The large size of SACS and its translated protein has hindered biochemical analysis of ARSACS, and how mutant sacsins lead to disease remains...

journal_title：Human mutation

authors： Romano A,Tessa A,Barca A,Fattori F,de Leva MF,Terracciano A,Storelli C,Santorelli FM,Verri T

更新日期：2013-03-01 00:00:00

abstract：:Rare sequence variants in "high-risk" disease genes, often referred as unclassified variants (UVs), pose a serious challenge to genetic testing. However, UVs resulting in splicing alterations can be readily assessed by in vitro assays. Unfortunately, analytical and clinical interpretation of these assays is often chal...

journal_title：Human mutation

authors： de Garibay GR,Acedo A,García-Casado Z,Gutiérrez-Enríquez S,Tosar A,Romero A,Garre P,Llort G,Thomassen M,Díez O,Pérez-Segura P,Díaz-Rubio E,Velasco EA,Caldés T,de la Hoya M

更新日期：2014-01-01 00:00:00

abstract：:Variations in mitochondrial DNA (mtDNA) cytochrome b (mt-cyb) are frequently found within the healthy population, but also occur within a spectrum of mitochondrial and common diseases. mt-cyb encodes the core subunit (MT-CYB) of complex III, a central component of the oxidative phosphorylation system that drives cellu...

journal_title：Human mutation

authors： Song Z,Laleve A,Vallières C,McGeehan JE,Lloyd RE,Meunier B

更新日期：2016-09-01 00:00:00

abstract：:IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and ...

journal_title：Human mutation

authors： van de Vosse E,Haverkamp MH,Ramirez-Alejo N,Martinez-Gallo M,Blancas-Galicia L,Metin A,Garty BZ,Sun-Tan Ç,Broides A,de Paus RA,Keskin Ö,Çağdaş D,Tezcan I,Lopez-Ruzafa E,Aróstegui JI,Levy J,Espinosa-Rosales FJ,Sanal Ö,

更新日期：2013-10-01 00:00:00

abstract：:In the analysis of 40 CEPH families, under the EUROGEM project, with a total of 29 microsatellites (26 CA-repeats, a TCTA-repeat within the vWFII-3 gene, a TTA-repeat within the PLA-2 gene, and an AAAT-repeat intragenic to the NF1 gene) from human chromosomes 12, 17, and 21, we have detected 21 cases of abnormal segre...

journal_title：Human mutation

authors： Banchs I,Bosch A,Guimerà J,Lázaro C,Puig A,Estivill X

更新日期：1994-01-01 00:00:00