Identification of P gene mutations in individuals with oculocutaneous albinism in sub-saharan africa; robyn kerr, gwynneth stevens, prashiela manga, sarah salm, premila john, tabitha haw, and michele ramsay; (Article was originally published in human muta

abstract：:The 2016 scientific meeting of the Human Genome Variation Society (HGVS; http://www.hgvs.org) was held on the 20th of May in Barcelona, Spain, with the theme of "Clinical Interpretation of Variants from Next-Generation Sequencing." ...

journal_title：Human mutation

authors： Oetting WS,Brookes AJ,Béroud C,Taschner PE

更新日期：2016-10-01 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：:Li-Fraumeni syndrome (LFS) is an autosomal-dominant cancer predisposition disorder associated with pathogenic germline variants in TP53, with a high penetrance over an individual's lifetime. The actual population prevalence of pathogenic germline TP53 mutations is still unclear, most likely due to biased selection of ...

journal_title：Human mutation

authors： de Andrade KC,Mirabello L,Stewart DR,Karlins E,Koster R,Wang M,Gapstur SM,Gaudet MM,Freedman ND,Landi MT,Lemonnier N,Hainaut P,Savage SA,Achatz MI

更新日期：2017-12-01 00:00:00

abstract：:We have analysed 194 Belgian CF chromosomes using a variety of techniques: delta F508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G-->A, and N1303K; molecular defects in exons 2, 3, 4, 5, 6b, 7, 11, 12, 13, 14a, 14b, 17b, 19, 20, and...

journal_title：Human mutation

authors： Mercier B,Lissens W,Audrézet MP,Bonduelle M,Liebaers I,Ferec C

更新日期：1993-01-01 00:00:00

abstract：:Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and hematological phenotypic heterogeneity. Over 1,200 different genetic alterations that affect the DNA se...

journal_title：Human mutation

authors： Patrinos GP,Kollia P,Papadakis MN

更新日期：2005-11-01 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：:Mutation detection based on ribonuclease cleavage of basepair mismatches in single-stranded RNA probes hybridized to DNA targets was first described over 15 years ago. The original methods relied on RNase A for mismatch cleavage; however, this enzyme fails to cleave many mismatches and has other drawbacks. More recent...

journal_title：Human mutation

authors： Goldrick MM

更新日期：2001-09-01 00:00:00

abstract：:Voltage-gated sodium channels are pore-forming transmembrane proteins that selectively allow sodium ions to flow across the plasma membrane according to the electro-chemical gradient thus mediating the rising phase of action potentials in excitable cells and playing key roles in physiological processes such as neurotr...

journal_title：Human mutation

authors： Hinard V,Britan A,Schaeffer M,Zahn-Zabal M,Thomet U,Rougier JS,Bairoch A,Abriel H,Gaudet P

更新日期：2017-05-01 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：:There is strong evidence that overtly inactivating mutations in RAD51C predispose to hereditary breast and ovarian cancer but the prevalence of such mutations, and whether they are associated with a particular clinical phenotype, remains unclear. Resolving these questions has important implications for the implementat...

journal_title：Human mutation

authors： Thompson ER,Boyle SE,Johnson J,Ryland GL,Sawyer S,Choong DY,kConFab,Chenevix-Trench G,Trainer AH,Lindeman GJ,Mitchell G,James PA,Campbell IG

更新日期：2012-01-01 00:00:00

abstract：:A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10, and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants ...

journal_title：Human mutation

authors： Lambrechts D,Truong T,Justenhoven C,Humphreys MK,Wang J,Hopper JL,Dite GS,Apicella C,Southey MC,Schmidt MK,Broeks A,Cornelissen S,van Hien R,Sawyer E,Tomlinson I,Kerin M,Miller N,Milne RL,Zamora MP,Pérez JI,Beníte

更新日期：2012-07-01 00:00:00

abstract：:Classical galactosemia is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. Our group developed a disease-specific database containing all of the reported sequence variants in GALT (Available at: http://arup.utah.edu/database/galactosemia/GALT_welcome.php; ...

journal_title：Human mutation

authors： Calderon FR,Phansalkar AR,Crockett DK,Miller M,Mao R

更新日期：2007-10-01 00:00:00

abstract：:The inclusion of a mutation in a pathology-based database such as the Human Gene Mutation Database (HGMD) is a two-stage process: first, the mutation must occur at the DNA level, then it must cause a clinically detectable disease state. The likelihood of the latter step, termed the relative clinical observation likeli...

journal_title：Human mutation

authors： Terp BN,Cooper DN,Christensen IT,Jørgensen FS,Bross P,Gregersen N,Krawczak M

更新日期：2002-08-01 00:00:00

abstract：:Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E1 alpha gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole coding region of ...

journal_title：Human mutation

authors： Lissens W,De Meirleir L,Seneca S,Benelli C,Marsac C,Poll-The BT,Briones P,Ruitenbeek W,van Diggelen O,Chaigne D,Ramaekers V,Liebaers I

更新日期：1996-01-01 00:00:00

abstract：:The success rate of association studies can be improved by selecting better genetic markers for genotyping or by providing better leads for identifying pathogenic single nucleotide polymorphisms (SNPs) in the regions of linkage disequilibrium with positive disease associations. We have developed a novel algorithm to p...

journal_title：Human mutation

authors： Cai Z,Tsung EF,Marinescu VD,Ramoni MF,Riva A,Kohane IS

更新日期：2004-08-01 00:00:00

abstract：:In this study we have examined 32 patients with Beckwith Wiedemann Syndrome (BWS) for mutations affecting the CDKN1C gene, including seven cases of familial BWS. Mutations were not detected in the coding region of the CDKN1C gene in any individual with BWS. However in two patients, two G/A base substitutions at adjace...

journal_title：Human mutation

authors： Algar E,Brickell S,Deeble G,Amor D,Smith P

更新日期：2000-01-01 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：:Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and pr...

journal_title：Human mutation

authors： Has C,Castiglia D,del Rio M,Diez MG,Piccinni E,Kiritsi D,Kohlhase J,Itin P,Martin L,Fischer J,Zambruno G,Bruckner-Tuderman L

更新日期：2011-11-01 00:00:00

abstract：:Ten years ago, the groundwork for the discovery of the genetic basis of chronic pancreatitis was laid by linkage analyses of large kindreds with autosomal dominant hereditary chronic pancreatitis. Subsequent candidate gene sequencing of the 7q35 chromosome region revealed a strong association of the c.365G > A (p.R122...

journal_title：Human mutation

authors： Teich N,Rosendahl J,Tóth M,Mössner J,Sahin-Tóth M

更新日期：2006-08-01 00:00:00

abstract：:Dilated cardiomyopathy (DCM) is characterized by dilation of left ventricular cavity with systolic dysfunction. Clinical symptom of DCM is heart failure, often associated with cardiac sudden death. About 20-35% of DCM patients have apparent family histories and it has been revealed that mutations in genes for sarcomer...

journal_title：Human mutation

authors： Arimura T,Ishikawa T,Nunoda S,Kawai S,Kimura A

更新日期：2011-12-01 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：:Mutations in the familial early-onset breast cancer gene (BRCA1) account for approximately 2-5% of all breast cancer cases (Easton et al., 1993). Since the isolation of the BRCA1 gene in 1994, many mutations have been identified. We report here a total of 254 BRCA1 mutations, 132 (52%) of which are unique. These repre...

journal_title：Human mutation

authors： Couch FJ,Weber BL

更新日期：1996-01-01 00:00:00

abstract：:Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutat...

journal_title：Human mutation

authors： van den Hurk JA,Schwartz M,van Bokhoven H,van de Pol TJ,Bogerd L,Pinckers AJ,Bleeker-Wagemakers EM,Pawlowitzki IH,Rüther K,Ropers HH,Cremers FP

更新日期：1997-01-01 00:00:00

abstract：:Hereditary methemoglobinemia due to reduced nicotin amide adenine dinucleotide (NADH)-cytochrome b5 reductase (b5r) deficiency is classified into an erythrocyte type (I) and a generalized type (II). We investigated the b5r gene of three unrelated patients with types I and II and found four novel mutations. The patient...

journal_title：Human mutation

authors： Kugler W,Pekrun A,Laspe P,Erdlenbruch B,Lakomek M

更新日期：2001-04-01 00:00:00

abstract：:With the exponential reduction of the cost of next-generation sequencing (NGS), it is no longer the generation of data but the analysis and interpretation of massive amounts of sequencing data that are seen as key challenges for the effective integration of these technologies into clinical practice. Clinical geneticis...

journal_title：Human mutation

authors： Smith A,Boycott KM,Jarinova O

更新日期：2014-02-01 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：:Sotos syndrome is a human developmental and cognitive disorder caused by happloinsufficiency of transcription factor NSD1. Similar phenotypes arise from NSD1 gene deletion or from point mutations in 9 of 13 NSD1 domains, including all 6 PHD domains, indicating that each NSD1 domain performs an essential role. To gain ...

journal_title：Human mutation

authors： Pasillas MP,Shah M,Kamps MP

更新日期：2011-03-01 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

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：:Autosomal-recessive retinitis pigmentosa (arRP) was recently associated with mutations in a novel gene EYS, spanning over 2 Mb, making it the largest known gene expressed in the human eye. The purpose of this study was to establish the prevalence and nature of EYS mutations in a clinically well-characterized cohort of...

journal_title：Human mutation

authors： Audo I,Sahel JA,Mohand-Saïd S,Lancelot ME,Antonio A,Moskova-Doumanova V,Nandrot EF,Doumanov J,Barragan I,Antinolo G,Bhattacharya SS,Zeitz C

更新日期：2010-05-01 00:00:00