Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.

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：:Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of sev...

journal_title：Human mutation

authors： Hijazi H,Coelho FS,Gonzaga-Jauregui C,Bernardini L,Mar SS,Manning MA,Hanson-Kahn A,Naidu S,Srivastava S,Lee JA,Jones JR,Friez MJ,Alberico T,Torres B,Fang P,Cheung SW,Song X,Davis-Williams A,Jornlin C,Wight PA,Paty

更新日期：2020-01-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole-exome sequencing to iden...

journal_title：Human mutation

authors： Ng BG,Raymond K,Kircher M,Buckingham KJ,Wood T,Shendure J,Nickerson DA,Bamshad MJ,University of Washington Center for Mendelian Genomics.,Wong JT,Monteiro FP,Graham BH,Jackson S,Sparkes R,Scheuerle AE,Cathey S,Kok F,Gib

更新日期：2015-11-01 00:00:00

abstract：:FH Helsinki is a deletion of the low-density lipoprotein receptor (LDLR) gene that deletes 9.6 kb from intron 15 to exon 18. Screening for mutant transcripts by Northern blot analysis from a patient heterozygous for FH Helsinki revealed two mutant transcripts. One was a transcript where the proximal part of intron 15 ...

journal_title：Human mutation

authors： Rødningen OK,Tonstad S,Ose L,Berg K,Leren TP

更新日期：1998-01-01 00:00:00

abstract：:Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mu...

journal_title：Human mutation

authors： de Meeus A,Guittard C,Desgeorges M,Carles S,Demaille J,Claustres M

更新日期：1998-01-01 00:00:00

abstract：:Linkage studies have provided evidence that one or more loci on chromosome 9q influence Alzheimer disease (AD). The gene encoding the ATP-binding cassette A1 transporter (ABCA1) resides within proximity of previously identified linkage peaks and represents a plausible biological candidate for AD due to its central rol...

journal_title：Human mutation

authors： Katzov H,Chalmers K,Palmgren J,Andreasen N,Johansson B,Cairns NJ,Gatz M,Wilcock GK,Love S,Pedersen NL,Brookes AJ,Blennow K,Kehoe PG,Prince JA

更新日期：2004-04-01 00:00:00

abstract：:Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected. Most of the germline VHL mutations (124/137) occurred in 1-2 families; a few occured ...

journal_title：Human mutation

authors： Zbar B,Kishida T,Chen F,Schmidt L,Maher ER,Richards FM,Crossey PA,Webster AR,Affara NA,Ferguson-Smith MA,Brauch H,Glavac D,Neumann HP,Tisherman S,Mulvihill JJ,Gross DJ,Shuin T,Whaley J,Seizinger B,Kley N,Olschwang

更新日期：1996-01-01 00:00:00

abstract：:The Human Genome Variation Society annual scientific meeting was held on 26 October 2004 in Toronto, Canada, and attracted 85 registrants. Meeting participants from 14 countries reported on the recent advances and progress made toward the detection, analysis, and documentation of genetic variation. Reports were made o...

journal_title：Human mutation

authors： Oetting WS,Tabone T

更新日期：2005-08-01 00:00:00

abstract：:Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation in the TRIM32 gene in chromosome region 9q32, causing LGMD2H in approximately two-thirds of the 60 Hutterite LGMD patients studied to date. A genomewide scan was undertaken in five families...

journal_title：Human mutation

authors： Frosk P,Greenberg CR,Tennese AA,Lamont R,Nylen E,Hirst C,Frappier D,Roslin NM,Zaik M,Bushby K,Straub V,Zatz M,de Paula F,Morgan K,Fujiwara TM,Wrogemann K

更新日期：2005-01-01 00:00:00

abstract：:Vax1 and Vax2 have been implicated in eye development and the closure of the choroid fissure in mice and zebrafish. We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia (A/M). In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>A and c.454C>A, ...

journal_title：Human mutation

authors： Slavotinek AM,Chao R,Vacik T,Yahyavi M,Abouzeid H,Bardakjian T,Schneider A,Shaw G,Sherr EH,Lemke G,Youssef M,Schorderet DF

更新日期：2012-02-01 00:00:00

abstract：:Autosomal recessive spinal muscular atrophy (SMA) is a common, fatal neuromuscular disease caused by homozygous absence of the SMN1 gene in approximately 94% of patients. However, a highly homologous SMN2 gene exists in the same chromosome interval, centromeric to SMN1, and hampers detection of SMN1. We present a new,...

journal_title：Human mutation

authors： Su YN,Hung CC,Li H,Lee CN,Cheng WF,Tsao PN,Chang MC,Yu CL,Hsieh WS,Lin WL,Hsu SM

更新日期：2005-05-01 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：:Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate the condition from...

journal_title：Human mutation

authors： Callewaert BL,Loeys BL,Ficcadenti A,Vermeer S,Landgren M,Kroes HY,Yaron Y,Pope M,Foulds N,Boute O,Galán F,Kingston H,Van der Aa N,Salcedo I,Swinkels ME,Wallgren-Pettersson C,Gabrielli O,De Backer J,Coucke PJ,De Paep

更新日期：2009-03-01 00:00:00

abstract：:Next-generation sequencing led to the identification of many potential novel disease genes. The presence of mutations in the same gene in multiple unrelated patients is, however, a priori insufficient to establish that these genes are truly involved in the respective disease. Here, we show how phenotype information ca...

journal_title：Human mutation

authors： Vulto-van Silfhout AT,Gilissen C,Goeman JJ,Jansen S,van Amen-Hellebrekers CJM,van Bon BWM,Koolen DA,Sistermans EA,Brunner HG,de Brouwer APM,de Vries BBA

更新日期：2017-05-01 00:00:00

abstract：:There is a well-recognized growing need for improved access to online genetic and genomics education for professionals, students, teachers, and the public. Numerous individual online genetic and genomic educational resources have been developed, but many are difficult to identify or locate when required. Consequently,...

journal_title：Human mutation

authors： Tobias AP,Tobias ES

更新日期：2020-12-01 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：:In reduced representation bisulfite sequencing (RRBS), genomic DNA is digested with the restriction enzyme and then subjected to next-generation sequencing, which enables detection and quantification of DNA methylation at whole-genome scale with low cost. However, the data processing, interpretation, and analysis of t...

journal_title：Human mutation

authors： Wang T,Liu Q,Li X,Wang X,Li J,Zhu X,Sun ZS,Wu J

更新日期：2013-12-01 00:00:00

abstract：:Two years after the first mutation on exon 7 in the carboxy-terminal part of the hinge domain (D) was reported (Behr and Loos 1992), we have identified the second mutation on exon 7 in patients with GRTH. Interestingly, our mutation it is not located in the two previously described "hot spot regions", but instead very...

journal_title：Human mutation

authors： Pohlenz J,Schönberger W,Wemme H,Winterpacht A,Wirth S,Zabel B

更新日期：1996-01-01 00:00:00

abstract：:Multiple variants of the vascular adhesion molecule-1 (VCAM1) promoter show increased nucleotide heterozygosity in the African American population. Using a novel transfection-based transcriptional pathway profiling method, we show that select uncommon variants are functionally hyperactive. Eight candidate VCAM1 promot...

journal_title：Human mutation

authors： Idelman G,Taylor JG,Tongbai R,Chen RA,Haggerty CM,Bilke S,Chanock SJ,Gardner K

更新日期：2007-08-01 00:00:00

abstract：:Deficiency of carbamoyl phosphate synthetase I (CPSI) results in hyperammonemia ranging from neonatally lethal to environmentally induced adult-onset disease. Over 24 years, analysis of tissue and DNA samples from 205 unrelated individuals diagnosed with CPSI deficiency (CPSID) detected 192 unique CPS1 gene changes, o...

journal_title：Human mutation

authors： Häberle J,Shchelochkov OA,Wang J,Katsonis P,Hall L,Reiss S,Eeds A,Willis A,Yadav M,Summar S,Urea Cycle Disorders Consortium.,Lichtarge O,Rubio V,Wong LJ,Summar M

更新日期：2011-06-01 00:00:00

abstract：:Fumarate hydratase (FH) mutations underpin the autosomal recessive syndrome. FH deficiency and the autosomal dominant syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRCC). The FH c.1431_1433dupAAA (p.Lys477dup) genomic alteration has been conclusively shown to contribute to FH deficiency when occurring ...

journal_title：Human mutation

authors： Zhang L,Walsh MF,Jairam S,Mandelker D,Zhong Y,Kemel Y,Chen YB,Musheyev D,Zehir A,Jayakumaran G,Brzostowski E,Birsoy O,Yang C,Li Y,Somar J,DeLair D,Pradhan N,Berger MF,Cadoo K,Carlo MI,Robson ME,Stadler ZK,Iaco

更新日期：2020-01-01 00:00:00

abstract：:Stormorken syndrome is a rare autosomal-dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. A heterozygous missense mutation in STIM1 exon 7 (c.910C>T; p.Arg304Trp) (NM_003156.3) was found to segregate wi...

journal_title：Human mutation

authors： Misceo D,Holmgren A,Louch WE,Holme PA,Mizobuchi M,Morales RJ,De Paula AM,Stray-Pedersen A,Lyle R,Dalhus B,Christensen G,Stormorken H,Tjønnfjord GE,Frengen E

更新日期：2014-05-01 00:00:00

abstract：:Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Forty-nine differ...

journal_title：Human mutation

authors： Eng CM,Desnick RJ

更新日期：1994-01-01 00:00:00

abstract：:Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B(6)) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified as having definite, probable, or possible PDE. Recentl...

journal_title：Human mutation

authors： Plecko B,Paul K,Paschke E,Stoeckler-Ipsiroglu S,Struys E,Jakobs C,Hartmann H,Luecke T,di Capua M,Korenke C,Hikel C,Reutershahn E,Freilinger M,Baumeister F,Bosch F,Erwa W

更新日期：2007-01-01 00:00:00

abstract：:Retinitis pigmentosa (RP) is the most frequent form of inherited retinopathy. RP is genetically heterogeneous with autosomal dominant, autosomal recessive and X-linked forms. Autosomal dominant retinitis pigmentosa (adRP) accounts for about 20-25% of all RP cases. At least ten adRP loci have so far been mapped. Howeve...

journal_title：Human mutation

authors： Martinez-Gimeno M,Maseras M,Baiget M,Beneito M,Antiñolo G,Ayuso C,Carballo M

更新日期：2001-06-01 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：: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：:Protein tyrosine phosphatases (PTPs) tightly regulate tyrosine phosphorylation essential for cell growth, adhesion, migration, and survival. We performed a mutational analysis of the PTP gene family in cutaneous metastatic melanoma and identified 23 phosphatase genes harboring somatic mutations. Among these, receptor-...

journal_title：Human mutation

authors： Walia V,Prickett TD,Kim JS,Gartner JJ,Lin JC,Zhou M,Rosenberg SA,Elble RC,Solomon DA,Waldman T,Samuels Y

更新日期：2014-11-01 00:00:00

abstract：:PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a...

journal_title：Human mutation

authors： Morel G,Duhamel C,Boussion S,Frénois F,Lesca G,Chatron N,Labalme A,Sanlaville D,Edery P,Thevenon J,Faivre L,Fassier A,Prodhomme O,Escande F,Manouvrier S,Petit F,Geneviève D,Rossi M

更新日期：2020-09-01 00:00:00

abstract：:SNPs from the non-recombining part of the human Y chromosome (Y-SNPs) are informative to classify paternal lineages in forensic, genealogical, anthropological, and evolutionary studies. Although thousands of Y-SNPs were identified thus far, previous Y-SNP multiplex tools target only dozens of markers simultaneously, t...

journal_title：Human mutation

authors： Ralf A,van Oven M,Zhong K,Kayser M

更新日期：2015-01-01 00:00:00