Predicting functional variants in enhancer and promoter elements using RegulomeDB.

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：:A strategy is described that exploits allele-specific amplification (ASA-PCR) and electrochemiluminescence (ECL) detection technology to rapidly and cheaply screen large numbers of DNAs arranged in pooled matrices in order to identify individual nucleotide sequence variants. To demonstrate this strategy, a large genom...

journal_title：Human mutation

authors： Bergen A,Wang CY,Nakhai B,Goldman D

更新日期：1996-01-01 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：: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：:Glutamatergic neurotransmission is crucial for brain development, wiring neuronal function, and synaptic plasticity mechanisms. Recent genetic studies showed the existence of autosomal dominant de novo GRIN gene variants associated with GRIN-related disorders (GRDs), a rare pediatric neurological disorder caused by N-...

journal_title：Human mutation

authors： García-Recio A,Santos-Gómez A,Soto D,Julia-Palacios N,García-Cazorla À,Altafaj X,Olivella M

更新日期：2020-11-30 00:00:00

abstract：:Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted disease characterized by severe growth delays of prenatal onset caused by mutations in the TRIM37 gene. Recent studies on the subcellular localization revealed that the TRIM37 (KIAA0898) protein is located in peroxisomes. Ther...

journal_title：Human mutation

authors： Jagiello P,Hammans C,Wieczorek S,Arning L,Stefanski A,Strehl H,Epplen JT,Gencik M

更新日期：2003-06-01 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：:We report the largest international study on Glanzmann thrombasthenia (GT), an inherited bleeding disorder where defects of the ITGA2B and ITGB3 genes cause quantitative or qualitative defects of the αIIbβ3 integrin, a key mediator of platelet aggregation. Sequencing of the coding regions and splice sites of both gene...

journal_title：Human mutation

authors： Nurden AT,Pillois X,Fiore M,Alessi MC,Bonduel M,Dreyfus M,Goudemand J,Gruel Y,Benabdallah-Guerida S,Latger-Cannard V,Négrier C,Nugent D,Oiron RD,Rand ML,Sié P,Trossaert M,Alberio L,Martins N,Sirvain-Trukniewicz P,Co

更新日期：2015-05-01 00:00:00

abstract：:Oculodentodigital dysplasia (ODDD) and Hallermann-Streiff syndrome (HSS) share several clinical characteristics. However, while ODDD is a dominantly inherited disorder due to mutations in the connexin 43 gene GJA1, the inheritance pattern of the HSS syndrome is still debated. Overlapping phenotypes have been described...

journal_title：Human mutation

authors： Pizzuti A,Flex E,Mingarelli R,Salpietro C,Zelante L,Dallapiccola B

更新日期：2004-03-01 00:00:00

abstract：:We previously identified the polymorphism ss52051869 in the 3'UTR of human SLC7A1, and demonstrated that it might participate in the apparent link between altered endothelial function, decreased L-arginine and nitric oxide (NO) metabolism, and a genetic predisposition to essential hypertension. Here, we demonstrate th...

journal_title：Human mutation

authors： Yang Z,Kaye DM

更新日期：2009-03-01 00:00:00

abstract：:Hereditary tyrosinemia type I (HTI) is an autosomal recessive disease characterized by a deficiency in fumarylacetoacetate hydrolase (FAH) activity. In this work, the FAH genotype was established in a group of 29 HTI patients, most of them from the Mediterranean area. We identified seven novel mutations-IVS8-1(G>A, IV...

journal_title：Human mutation

authors： Arranz JA,Piñol F,Kozak L,Pérez-Cerdá C,Cormand B,Ugarte M,Riudor E

更新日期：2002-09-01 00:00:00

abstract：:Mutations in each of the 13 identified human PEX genes are known to cause a peroxisomal biogenesis defect (PBD). Affected patients can be divided into two broad clinical spectra: the Zellweger spectrum, which accounts for about 80% of PBD patients, and the rhizomelia chondrodysplasia punctata (RCDP) spectrum. The clin...

journal_title：Human mutation

authors： Krause C,Rosewich H,Thanos M,Gärtner J

更新日期：2006-11-01 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：:BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer (HBOC) does not identify all pathogenic variants. Sequencing of 20 complete genes in HBOC patients with uninformative test results (N = 287), including noncoding and flanking sequences of ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, ...

journal_title：Human mutation

authors： Caminsky NG,Mucaki EJ,Perri AM,Lu R,Knoll JH,Rogan PK

更新日期：2016-07-01 00:00:00

abstract：:Gaucher disease results from mutations in the glucocerebrosidase gene located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel mutation in a German-British patient with ...

journal_title：Human mutation

authors： Choy FY,Humphries ML,Ben-Yoseph Y

更新日期：1998-01-01 00:00:00

abstract：:SH3 and cysteine-rich domain-containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation-contraction coupling (ECC) machinery, though its role and function are not yet completely understood. Here, we report 18 patients carrying a homozygous p.(Trp284Ser) STAC3 variant in addition to a pati...

journal_title：Human mutation

authors： Zaharieva IT,Sarkozy A,Munot P,Manzur A,O'Grady G,Rendu J,Malfatti E,Amthor H,Servais L,Urtizberea JA,Neto OA,Zanoteli E,Donkervoort S,Taylor J,Dixon J,Poke G,Foley AR,Holmes C,Williams G,Holder M,Yum S,Medne L

更新日期：2018-12-01 00:00:00

abstract：:To investigate the molecular basis of familial hypercholesterolemia (FH) in France, we applied the single strand conformation polymorphism (SSCP) method to the promoter region and the 18 exons of the low density lipoprotein receptor (LDLR) gene. Seven probands, 4 heterozygotes, 2 compound heterozygotes, and 1 homozygo...

journal_title：Human mutation

authors： Loux N,Saint-Jore B,Collod G,Dairou F,Benlian P,Truffert J,Dastugue B,Douste-Blazy P,de Gennes JL,Junien C

更新日期：1992-01-01 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：:Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A (ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed by comprehensive nuc...

journal_title：Human mutation

authors： Eng B,Nakamura LN,O'Reilly N,Schokman N,Nowaczyk MM,Krivit W,Waye JS

更新日期：2003-11-01 00:00:00

abstract：:Hereditary hemorrhagic telangiectasia (HHT), or Osler-Rendu-Weber syndrome, is a heterogeneous inherited disorder characterized by multi-systemic vascular dysplasia and wide variation in its phenotypic expression. Hepatic manifestation is seen in about 8 to 30 % of the patients. The molecular basis for liver involveme...

journal_title：Human mutation

authors： Kuehl HK,Caselitz M,Hasenkamp S,Wagner S,El-Harith el-HA,Manns MP,Stuhrmann M

更新日期：2005-03-01 00:00:00

abstract：:Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense mutation, c.1006C>T; p.R336C (p.Arg336Cys). We characterized the structure-function relationship of th...

journal_title：Human mutation

authors： Ismail HM,Krishnamoorthy N,Al-Dewik N,Zayed H,Mohamed NA,Giacomo VD,Gupta S,Häberle J,Thöny B,Blom HJ,Kruger WD,Ben-Omran T,Nasrallah GK

更新日期：2019-02-01 00:00:00

abstract：:ICF syndrome is a rare autosomal recessive immunoglobulin deficiency, sometimes combined with defective cellular immunity. Other features that are frequently observed in ICF syndrome patients include facial dysmorphism, developmental delay, and recurrent infections. The most diagnostic feature of ICF syndrome is the b...

journal_title：Human mutation

authors： Wijmenga C,Hansen RS,Gimelli G,Björck EJ,Davies EG,Valentine D,Belohradsky BH,van Dongen JJ,Smeets DF,van den Heuvel LP,Luyten JA,Strengman E,Weemaes C,Pearson PL

更新日期：2000-12-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a genetic heterogeneous disease with high mortality and poor prognosis. However, a large fraction of genetic cause remains unexplained, especially in sporadic IPF (∼80% IPF). By systemically reviewing related literature and potential pathogenic pathways, 92 potentially IPF-relate...

journal_title：Human mutation

authors： Deng Y,Li Z,Liu J,Wang Z,Cao Y,Mou Y,Fu B,Mo B,Wei J,Cheng Z,Luo L,Li J,Shu Y,Wang X,Luo G,Yang S,Wang Y,Zhu J,Yang J,Wu M,Xu X,Ge R,Chen X,Peng Q,Wei G,Li Y,Yang H,Fang S,Zhang X,Xiong W

更新日期：2018-09-01 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：:The Internet has been a key component in the coordination of the diverse group of scientists involved in the Human Genome Project. Nowhere has this contribution been more critical than in the maintenance and exchange of information about genetic variation and mutation. Whereas the majority of DNA sequence is generated...

journal_title：Human mutation

authors： Porter CJ,Talbot CC,Cuticchia AJ

更新日期：2000-01-01 00:00:00

abstract：:Alagille syndrome (AGS) is an autosomal dominant disorder characterized by five major symptoms: cholestasis, vertebral deformity, heart malformations, ocular defects and peculiar facial appearance. The previously described Jagged1 (JAG1) gene on chromosome 20p12 has been identified as being responsible for AGS. JAG1 e...

journal_title：Human mutation

authors： Röpke A,Kujat A,Gräber M,Giannakudis J,Hansmann I

更新日期：2003-01-01 00:00:00

abstract：:Neutrophil elastase gene (ELANE) mutations are responsible for the majority of cases of severe congenital neutropenia (CN) and cyclic neutropenia (CyN). We screened CN (n = 395) or CyN (n = 92) patients for ELANE mutations and investigated the impact of mutations on mRNA expression, protein expression, and activity. W...

journal_title：Human mutation

authors： Germeshausen M,Deerberg S,Peter Y,Reimer C,Kratz CP,Ballmaier M

更新日期：2013-06-01 00:00:00

abstract：:Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, and impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated in CMT disease. ARSs are ubiquitously expressed, essential en...

journal_title：Human mutation

authors： McLaughlin HM,Sakaguchi R,Giblin W,NISC Comparative Sequencing Program.,Wilson TE,Biesecker L,Lupski JR,Talbot K,Vance JM,Züchner S,Lee YC,Kennerson M,Hou YM,Nicholson G,Antonellis A

更新日期：2012-01-01 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：:Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contrac...

journal_title：Human mutation

authors： Smith H,Galmes R,Gogolina E,Straatman-Iwanowska A,Reay K,Banushi B,Bruce CK,Cullinane AR,Romero R,Chang R,Ackermann O,Baumann C,Cangul H,Cakmak Celik F,Aygun C,Coward R,Dionisi-Vici C,Sibbles B,Inward C,Kim CA,Klu

更新日期：2012-12-01 00:00:00