IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

abstract：:DNA mismatch repair (MMR) is essential for genome stability and inheritance of a mutated MMR gene, most frequently MSH2 or MLH1, results in cancer predisposition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC). Tumors that arise through MMR deficiency show instability at simple tandem repe...

journal_title：Human mutation

authors： Mendez-Bermudez A,Royle NJ

更新日期：2011-08-01 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：: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：:Cerebral cavernous malformations (CCMs) may cause recurrent headaches, seizures, and hemorrhagic stroke and have been associated with loss-of-function mutations in CCM1/KRIT1, CCM2, and CCM3/programmed cell death 10 (PDCD10). The CCM3/PDCD10 amino acid sequence does not reveal significant homologies to protein domains...

journal_title：Human mutation

authors： Voss K,Stahl S,Hogan BM,Reinders J,Schleider E,Schulte-Merker S,Felbor U

更新日期：2009-06-01 00:00:00

abstract：:We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon-Lefèvre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early-onset, severe periodontitis. Others have also reported CTSC mutations in patients with severe prepubertal pe...

journal_title：Human mutation

authors： Hewitt C,McCormick D,Linden G,Turk D,Stern I,Wallace I,Southern L,Zhang L,Howard R,Bullon P,Wong M,Widmer R,Gaffar KA,Awawdeh L,Briggs J,Yaghmai R,Jabs EW,Hoeger P,Bleck O,Rüdiger SG,Petersilka G,Battino M,Bre

更新日期：2004-03-01 00:00:00

abstract：:The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular diagnosticians with PTEN expertise to develop specifications to the 2015 ACMG/AMP Sequence Variant Interpretation Guidelines for PTEN variant interpretation. We ...

journal_title：Human mutation

authors： Mester JL,Ghosh R,Pesaran T,Huether R,Karam R,Hruska KS,Costa HA,Lachlan K,Ngeow J,Barnholtz-Sloan J,Sesock K,Hernandez F,Zhang L,Milko L,Plon SE,Hegde M,Eng C

更新日期：2018-11-01 00:00:00

abstract：:The most common mutation in the nephropathic cystinosis (CTNS) gene is a homozygous 57-kb deletion that also includes an adjacent gene carbohydrate kinase-like (CARKL). The latter gene encodes a protein that is predicted to function as a carbohydrate kinase. Cystinosis patients with the common 57-kb deletion had stron...

journal_title：Human mutation

authors： Wamelink MM,Struys EA,Jansen EE,Levtchenko EN,Zijlstra FS,Engelke U,Blom HJ,Jakobs C,Wevers RA

更新日期：2008-04-01 00:00:00

abstract：:The p53 tumor suppressor gene has proven to be one of the genes most often mutated in human cancers. It involves mainly point mutations leading to amino acid substitutions in the central region of the protein which impairs normal functions. Analysis of the mutational events that target the p53 gene has revealed eviden...

journal_title：Human mutation

authors： Soussi T,Dehouche K,Béroud C

更新日期：2000-01-01 00:00:00

abstract：:The 22q11.2 deletion syndrome (22q11DS) affects 1:4,000 live births and presents with highly variable phenotype expressivity. In this study, we developed an analytical approach utilizing whole-genome sequencing (WGS) and integrative analysis to discover genetic modifiers. Our pipeline combined available tools in order...

journal_title：Human mutation

authors： Chung JH,Cai J,Suskin BG,Zhang Z,Coleman K,Morrow BE

更新日期：2015-08-01 00:00:00

abstract：:The autosomal recessive lysosomal storage disorder, nephropathic cystinosis is characterized by impaired transport of free cystine out of lysosomes. The gene responsible for cystinosis, CTNS, consists of 12 exons and encodes a 55 kDa putative lysosomal membrane protein, called cystinosin. Up to now more than 55 differ...

journal_title：Human mutation

authors： Kiehntopf M,Schickel J,Gönne Bv,Koch HG,Superti-Furga A,Steinmann B,Deufel T,Harms E

更新日期：2002-09-01 00:00:00

abstract：:Chromosomal rearrangements such as microdeletions and interstitial duplications are the underlying cause of many human genetic disorders. These disorders can manifest in the form of multiple congenital anomalies (MCA), which are a significant cause of morbidity and mortality in children. The major limitations of cytog...

journal_title：Human mutation

authors： Ming JE,Geiger E,James AC,Ciprero KL,Nimmakayalu M,Zhang Y,Huang A,Vaddi M,Rappaport E,Zackai EH,Shaikh TH

更新日期：2006-05-01 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：:Mutations in the ribosomal protein (RP)S19 gene have been found in about 25% of the cases of Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia that includes variable physical malformations. Various mutations have been identified in the RPS19 gene, but no investigations regarding the effect of these a...

journal_title：Human mutation

authors： Chatr-Aryamontri A,Angelini M,Garelli E,Tchernia G,Ramenghi U,Dianzani I,Loreni F

更新日期：2004-12-01 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：:Familial cerebral cavernous malformation (FCCM) is an autosomal dominant vascular disorder caused by heterozygous deleterious variants in KRIT1, CCM2 or PDCD10. In a previous study, we presented the clinical and molecular findings in 140 FCCM individuals. In the present work, we report supporting information on (a) ap...

journal_title：Human mutation

authors： Fusco C,Copetti M,Mazza T,Amoruso L,Mastroianno S,Nardella G,Guarnieri V,Micale L,D'Agruma L,Castori M

更新日期：2019-11-01 00:00:00

abstract：:Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder of fatty acid oxidation caused by defective cellular carnitine transport. The disease is characterized by metabolic derangement simulating Reye's syndrome, hypoglcaemia, progressive cardiomyopathy and skeletal myopathy. Recently, it was sho...

journal_title：Human mutation

authors： Mayatepek E,Nezu J,Tamai I,Oku A,Katsura M,Shimane M,Tsuji A

更新日期：2000-01-01 00:00:00

abstract：:ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded by ABCC8 and ABCC9, respectively), couple metabolism to excitability in multiple tissues. Mutati...

journal_title：Human mutation

authors： Cooper PE,Reutter H,Woelfle J,Engels H,Grange DK,van Haaften G,van Bon BW,Hoischen A,Nichols CG

更新日期：2014-07-01 00:00:00

abstract：:Symphalangism (SYM or SYM1) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which father and son had bilat...

journal_title：Human mutation

authors： Mangino M,Flex E,Digilio MC,Giannotti A,Dallapiccola B

更新日期：2002-03-01 00:00:00

abstract：:Recently, we demonstrated that the qualitative American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of Mendelian disease gene variants are fundamentally compatible with a quantitative Bayesian formulation. Here, we show that the underlying ACMG/AMP "s...

journal_title：Human mutation

authors： Tavtigian SV,Harrison SM,Boucher KM,Biesecker LG

更新日期：2020-07-27 00:00:00

abstract：:The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, Lèri-Weill dyschondrosteosis, Langer syndrome, and Turner syndrome. So far, the ...

journal_title：Human mutation

authors： Niesler B,Fischer C,Rappold GA

更新日期：2002-11-01 00:00:00

abstract：:Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unknown, to this group of disorders. MEHMO is a rare X-li...

journal_title：Human mutation

authors： Skopkova M,Hennig F,Shin BS,Turner CE,Stanikova D,Brennerova K,Stanik J,Fischer U,Henden L,Müller U,Steinberger D,Leshinsky-Silver E,Bottani A,Kurdiova T,Ukropec J,Nyitrayova O,Kolnikova M,Klimes I,Borck G,Bahlo M,

更新日期：2017-04-01 00:00:00

abstract：:We participated in the Critical Assessment of Genome Interpretation eQTL challenge to further test computational models of regulatory variant impact and their association with human disease. Our prediction model is based on a discriminative gapped-kmer SVM (gkm-SVM) trained on genome-wide chromatin accessibility data ...

journal_title：Human mutation

authors： Beer MA

更新日期：2017-09-01 00:00:00

abstract：:We describe a simple method for expanding CAG trinucleotides in CAG-repeat containing genes which, in contrast to other techniques, leaves the original gene sequence intact. Here, we expanded the CAG stretches of a plasmid clone containing the cDNA of the SCA3/MJD gene from 22 CAG up to > 130 CAG repeats using polymer...

journal_title：Human mutation

authors： Laccone F,Maiwald R,Bingemann S

更新日期：1999-01-01 00:00:00

abstract：:Considerable differences exist for the spectrum of GJB2 mutations in different populations. Screening for the c.35delG mutation in 256 independent probands, 154 multiplex (familial) and 102 simplex (sporadic), coming from different regions of Turkey revealed 37 (14.5%) homozygotes. The allele frequency of c.35delG ran...

journal_title：Human mutation

authors： Tekin M,Duman T,Boğoçlu G,Incesulu A,Comak E,Ilhan I,Akar N

更新日期：2003-05-01 00:00:00

abstract：:Noncoding RNAs have been widely recognized as essential mediators of gene regulation. However, in contrast to protein-coding genes, much less is known about the influence of noncoding RNAs on human diseases. Here we examined the association of genetic variants located in primary microRNA sequences and long noncoding R...

journal_title：Human mutation

authors： Ghanbari M,Munshi ST,Ma B,Lendemeijer B,Bansal S,Adams HH,Wang W,Goth K,Slump DE,van den Hout MCGN,van IJcken WFJ,Bellusci S,Pan Q,Erkeland SJ,de Vrij FMS,Kushner SA,Ikram MA

更新日期：2019-11-01 00:00:00

abstract：:The Marfan (MFS) and Loeys-Dietz (LDS) syndromes are caused by mutations in the fibrillin-1 (FBN1) and Transforming Growth Factor Beta Receptor 1 and 2 (TGFBR1 and TGFBR2) genes, respectively. With the current conventional mutation screening technologies, analysis of this set of genes is time consuming and expensive. ...

journal_title：Human mutation

authors： Baetens M,Van Laer L,De Leeneer K,Hellemans J,De Schrijver J,Van De Voorde H,Renard M,Dietz H,Lacro RV,Menten B,Van Criekinge W,De Backer J,De Paepe A,Loeys B,Coucke PJ

更新日期：2011-09-01 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：: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

abstract：:The mitochondrial mutation A3243G has been shown to be associated with a syndrome of diabetes mellitus and sensorineural hearing loss. Using a solid-phase-based sequencing method we have investigated the relation between the proportion of mutant mitochondrial genomes and the time of disease onset among members of thre...

journal_title：Human mutation

authors： Olsson C,Zethelius B,Lagerström-Fermér M,Asplund J,Berne C,Landegren U

更新日期：1998-01-01 00:00:00

abstract：:Mutations of the connexin 26 gene (GJB2) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa. Among 121 mutated chromosomes found, 110 carried the previously described R143W mutation. A total of 6 novel mutations: L79P, V178A, R184Q,...

journal_title：Human mutation

authors： Hamelmann C,Amedofu GK,Albrecht K,Muntau B,Gelhaus A,Brobby GW,Horstmann RD

更新日期：2001-01-01 00:00:00