Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.

abstract：:The tumor suppressor gene, SMARCA4 (or BRG1), which encodes the ATPase component of the chromatin remodeling complex SWI/SNF, is commonly inactivated by mutations and deletions in lung cancer cell lines. However, SMARCA4 alterations appear to be rare in lung primary tumors. Ultra-deep sequencing technologies provide a...

journal_title：Human mutation

authors： Rodriguez-Nieto S,Cañada A,Pros E,Pinto AI,Torres-Lanzas J,Lopez-Rios F,Sanchez-Verde L,Pisano DG,Sanchez-Cespedes M

更新日期：2011-02-01 00:00:00

abstract：:MUTYH-associated polyposis (MAP) is an adenomatous polyposis transmitted in an autosomal-recessive pattern, involving biallelic inactivation of the MUTYH gene. Loss of a functional MUTYH protein will result in the accumulation of G:T mismatched DNA caused by oxidative damage. Although p.Y179C and p.G396D are the two m...

journal_title：Human mutation

authors： Komine K,Shimodaira H,Takao M,Soeda H,Zhang X,Takahashi M,Ishioka C

更新日期：2015-07-01 00:00:00

abstract：:We analyzed the data regarding six Japanese ataxia-telangiectasia (A-T) patients from four unrelated families, at the DNA level, to search for possible common mutations in the Japanese population. Among eight mutant alleles in the four families, c. 4612del165 (exon 33 skipping) was identified in two alleles, and c. 57...

journal_title：Human mutation

authors： Fukao T,Song XQ,Yoshida T,Tashita H,Kaneko H,Teramoto T,Inoue R,Katamura K,Mayumi M,Hiratani M,Taniguchi N,Arai J,Wakiguchi H,Bar-Shira A,Shiloh Y,Kondo N

更新日期：1998-01-01 00:00:00

abstract：:Constitutional heterozygous inactivating mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene cause the autosomal dominant disease NF2, and biallelic inactivating somatic NF2 mutations are found in a high proportion of unilateral sporadic vestibular schwannoma (USVS) and sporadic meningioma. We surveyed th...

journal_title：Human mutation

authors： Baser ME,Contributors to the International NF2 Mutation Database.

更新日期：2006-04-01 00:00:00

abstract：:We report the isolation and characterization of a polymorphic pentanucleotide repeat (TAAAA)n, which was mapped to human chromosomes X and Y (loci DXYS156X and DXYS156Y) by PCR amplification of DNA from a monochromosomal somatic cell hybrid panel (NIGMS panel 2). The (TAAAA)n repeat of loci DXYS156 occurs within a hum...

journal_title：Human mutation

authors： Chen H,Lowther W,Avramopoulos D,Antonarakis SE

更新日期：1994-01-01 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：: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：: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：:Homozygosity for a frameshift mutation at codon 1213 of FANCA gene was identified in a Turkish patient. Immunoprecipitation-western blot analysis showed the complete absence of the FANCA protein band. This novel mutation, a deletion of T at position 3639 in exon 37 (3639delT), is responsible for the disease and causes...

journal_title：Human mutation

authors： Balta G,de Winter JP,Kayserili H,Pronk JC,Joenje H

更新日期：2000-06-01 00:00:00

abstract：:Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive error of creatine synthesis characterized by cerebral creatine deficiency, accumulation of guanidinoacetate, mental retardation, epilepsy and extrapyramidal signs. So far, six mutations have been identified in seven patients. We investigate...

journal_title：Human mutation

authors： Item CB,Mercimek-Mahmutoglu S,Battini R,Edlinger-Horvat C,Stromberger C,Bodamer O,Mühl A,Vilaseca MA,Korall H,Stöckler-Ipsiroglu S

更新日期：2004-05-01 00:00:00

abstract：:DiGeorge (del22q11.2) syndrome is estimated to occur in 1:4,000 births, is the most common contiguous-gene deletion syndrome in humans, and is caused by autosomal dominant deletions in the 22q11.2 DiGeorge syndrome critical region (DGCR). Multiple microarray methods have been developed recently for analyzing such copy...

journal_title：Human mutation

authors： Stanczak CM,Chen Z,Nelson SF,Suchard M,McCabe ER,McGhee S

更新日期：2008-01-01 00:00:00

abstract：:At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac potassium channel KVLQT...

journal_title：Human mutation

authors： Saarinen K,Swan H,Kainulainen K,Toivonen L,Viitasalo M,Kontula K

更新日期：1998-01-01 00:00:00

abstract：:Reliable identification of cancer-related mutations in TP53 is often problematic, as these mutations can be randomly distributed throughout numerous codons and their relative abundance in clinical samples can fall below the sensitivity limits of conventional sequencing. To ensure the highest sensitivity in mutation de...

journal_title：Human mutation

authors： Li J,Milbury CA,Li C,Makrigiorgos GM

更新日期：2009-11-01 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：: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：:Antisense oligonucleotide (AON)-mediated exon skipping is an emerging therapeutic for individuals with Duchenne muscular dystrophy (DMD). Skipping of exons adjacent to common exon deletions in DMD using AONs can produce in-frame transcripts and functional protein. Targeted skipping of DMD exons 8, 44, 45, 50, 51, 52, ...

journal_title：Human mutation

authors： Wang RT,Barthelemy F,Martin AS,Douine ED,Eskin A,Lucas A,Lavigne J,Peay H,Khanlou N,Sweeney L,Cantor RM,Miceli MC,Nelson SF

更新日期：2018-09-01 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：: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：:Mutations in zinc-finger in cerebellum 3 (ZIC3) result in heterotaxy or isolated congenital heart disease (CHD). The majority of reported mutations cluster in zinc-finger domains. We previously demonstrated that many of these lead to aberrant ZIC3 subcellular trafficking. A relative paucity of N- and C-terminal mutati...

journal_title：Human mutation

authors： Cowan J,Tariq M,Ware SM

更新日期：2014-01-01 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：:Human transforming growth factor β-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cell surface interactions could be the underlying cause for the progr...

journal_title：Human mutation

authors： Kheir V,Cortés-González V,Zenteno JC,Schorderet DF

更新日期：2019-06-01 00:00:00

abstract：:The Human Variome Project (HVP) is an international consortium of clinicians, geneticists, and researchers from over 30 countries, aiming to facilitate the establishment and maintenance of standards, systems, and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease....

journal_title：Human mutation

authors： Pan M,Cong P,Wang Y,Lin C,Yuan Y,Dong J,Banerjee S,Zhang T,Chen Y,Zhang T,Chen M,Hu P,Zheng S,Zhang J,Qi M

更新日期：2011-12-01 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：: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：:Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this locus is associated ...

journal_title：Human mutation

authors： Azzi S,Steunou V,Rousseau A,Rossignol S,Thibaud N,Danton F,Le Jule M,Gicquel C,Le Bouc Y,Netchine I

更新日期：2011-02-01 00:00:00

abstract：:The aim of this study was to identify mutations in the lipoprotein lipase (LPL) gene in 20 unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the genotype/phenotype relationship. The previously reported G188E mutation (Monsalve et al., J Clin Invest 86:728-734, 1990) was screened for and...

journal_title：Human mutation

authors： Mailly F,Palmen J,Muller DP,Gibbs T,Lloyd J,Brunzell J,Durrington P,Mitropoulos K,Betteridge J,Watts G,Lithell H,Angelico F,Humphries SE,Talmud PJ

更新日期：1997-01-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1), an autosomal dominantly-inherited disorder, is mainly characterized by the occurrence of multiple dermal neurofibromas and is caused by mutations in the NF1 gene, a tumor suppressor gene. The variable expressivity of the disease and the lack of a genotype/phenotype correlation prevents ...

journal_title：Human mutation

authors： Wiest V,Eisenbarth I,Schmegner C,Krone W,Assum G

更新日期：2003-12-01 00:00:00

abstract：:Genomic variations with no apparent effect ("neutral polymorphisms") may have a significant effect on splicing. The effect of this type of mutation is difficult to spot, unless a functional assay is undertaken. In our study, DNA sequencing of a patient with clinically defined neurofibromatosis type 1 (NF1) showed only...

journal_title：Human mutation

authors： Raponi M,Upadhyaya M,Baralle D

更新日期：2006-03-01 00:00:00

abstract：:In the area of pharmacogenetics and personalized health care it is obvious that databases, providing important information of the occurrence and consequences of variant genes encoding drug metabolizing enzymes, drug transporters, drug targets, and other proteins of importance for drug response or toxicity, are of crit...

journal_title：Human mutation

authors： Sim SC,Altman RB,Ingelman-Sundberg M

更新日期：2011-05-01 00:00:00

abstract：:The BRCA1 and BRCA2 genes are involved in breast and ovarian cancer susceptibility. About 2 to 4% of breast cancer patients with positive family history, negative for point mutations, can be expected to carry large rearrangements in one of these two genes. We developed a novel diagnostic genetic test for the physical ...

journal_title：Human mutation

authors： Cheeseman K,Rouleau E,Vannier A,Thomas A,Briaux A,Lefol C,Walrafen P,Bensimon A,Lidereau R,Conseiller E,Ceppi M

更新日期：2012-06-01 00:00:00