Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNA.

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：: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：:A large number of sequence variants identified in BRCA1 and BRCA2 cannot be distinguished as either disease-causing mutations or neutral variants. These so-called unclassified variants (UVs) include variants that are located in the intronic sequences of BRCA1 and BRCA2. The purpose of this study was to assess the use ...

journal_title：Human mutation

authors： Vreeswijk MP,Kraan JN,van der Klift HM,Vink GR,Cornelisse CJ,Wijnen JT,Bakker E,van Asperen CJ,Devilee P

更新日期：2009-01-01 00:00:00

abstract：:Here we present a computational model, Score of Unified Regulatory Features (SURF), that predicts functional variants in enhancer and promoter elements. SURF is trained on data from massively parallel reporter assays and predicts the effect of variants on reporter expression levels. It achieved the top performance in ...

journal_title：Human mutation

authors： Dong S,Boyle AP

更新日期：2019-09-01 00:00:00

abstract：:The genetic polymorphism of thiopurine S-methyltransferase (TPMT) has had a highly significant clinical impact due to its association with individual variation in the toxicity and therapeutic efficiency of thiopurine drugs, which are pharmaceutical agents widely used in the treatment of several kinds of diseases. Unti...

journal_title：Human mutation

authors： Alves S,Prata MJ,Ferreira F,Amorim A

更新日期：2000-01-01 00:00:00

abstract：:To date, over 40 different mutations in transthyretin (TTR) have been associated with amyloid deposition. The major unresolved problem is the correlation between the clinical heterogeneity and the genetic heterogeneity. For instance, whereas some mutations produce neuropathy and some give rise to cardiomyopathy, other...

journal_title：Human mutation

authors： Saraiva MJ

更新日期：1995-01-01 00:00:00

abstract：:Single amino acid substitution is the type of protein alteration most related to human diseases. Current studies seek primarily to distinguish neutral mutations from harmful ones. Very few methods offer an explanation of the final prediction result in terms of the probable structural or functional effect on the protei...

journal_title：Human mutation

authors： Yip YL,Zoete V,Scheib H,Michielin O

更新日期：2006-09-01 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：:Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal-recess...

journal_title：Human mutation

authors： Yang CF,Wang CH,Siong H'ng W,Chang CP,Lin WD,Chen YT,Wu JY,Tsai FJ

更新日期：2017-05-01 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：:A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). In this work, a new mutation in the ALG3 gene causing atypical splicing is described with characterization of expression levels and transcript...

journal_title：Human mutation

authors： Denecke J,Kranz C,Kemming D,Koch HG,Marquardt T

更新日期：2004-05-01 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：: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：:Carbamoyl-phosphate synthetase I (CPS1) deficiency (CPS1D), a recessively inherited urea cycle error due to CPS1 gene mutations, causes life-threatening hyperammonemia. The disease-causing potential of missense mutations in CPS1 deficiency can be ascertained with the recombinant CPS1 expression and purification system...

journal_title：Human mutation

authors： Pekkala S,Martínez AI,Barcelona B,Yefimenko I,Finckh U,Rubio V,Cervera J

更新日期：2010-07-01 00:00:00

abstract：:We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or de...

journal_title：Human mutation

authors： Ruaud L,Rice GI,Cabrol C,Piard J,Rodero M,van Eyk L,Boucher-Brischoux E,de Noordhout AM,Maré R,Scalais E,Pauly F,Debray FG,Dobyns W,Uggenti C,Park JW,Hur S,Livingston JH,Crow YJ,Van Maldergem L

更新日期：2018-08-01 00:00:00

abstract：:Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene. An impairment of ASS function can lead to a wide spectrum of phenotypes, from life-threatening neonatal hyperammonemia to a later onset with mild symptoms...

journal_title：Human mutation

authors： Diez-Fernandez C,Rüfenacht V,Häberle J

更新日期：2017-05-01 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：:The beta-cell ATP-sensitive potassium channel is a key component of stimulus-secretion coupling in the pancreatic beta-cell. The channel couples metabolism to membrane electrical events, bringing about insulin secretion. Given the critical role of this channel in glucose homeostasis, it is not surprising that mutation...

journal_title：Human mutation

authors： Gloyn AL,Siddiqui J,Ellard S

更新日期：2006-03-01 00:00:00

abstract：:Recent genome screening studies have identified novel regions of possible interest for susceptibility to type 1 diabetes. One of these is a 30-35 cM region mapping to 16q22-q24 (D16S515-D16S520), where also the gene encoding NAD(P)H: quinone oxidoreductase (NQO1) maps. Data has suggested association of a polymorphism ...

journal_title：Human mutation

authors： Kristiansen OP,Larsen ZM,Johannesen J,Nerup J,Mandrup-Poulsen T,Pociot F

更新日期：1999-01-01 00:00:00

abstract：:The identification of mutations in the BRCA1 gene poses difficulties in achieving a screening outcome that satisfies the twin needs of speed and accuracy. These needs must also take into account the patient's family history and the statistical evaluation of the probability of detecting a mutation. Given the above, we ...

journal_title：Human mutation

authors： Hegde MR,Chong B,Fawkner MJ,Leary J,Shelling AN,Culling B,Winship I,Love DR

更新日期：2000-11-01 00:00:00

abstract：:Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identified on both alleles...

journal_title：Human mutation

authors： Giuliano F,Bannwarth S,Monnot S,Cano A,Chabrol B,Vialettes B,Delobel B,Paquis-Flucklinger V,French Group of WS.

更新日期：2005-01-01 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：:Most genomic alterations are tolerated while only a minor fraction disrupts molecular function sufficiently to drive disease. Protein kinases play a central biological function and the functional consequences of their variants are abundantly characterized. However, this heterogeneous information is often scattered acr...

journal_title：Human mutation

authors： Vazquez M,Pons T,Brunak S,Valencia A,Izarzugaza JM

更新日期：2016-01-01 00:00:00

abstract：:Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A. Point mutations and...

journal_title：Human mutation

authors： Bogdanova N,Lemcke B,Markoff A,Pollmann H,Dworniczak B,Eigel A,Horst J

更新日期：2001-12-01 00:00:00

abstract：:Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet, as diagnostic sequencing is increasingly employed, vast amounts of human genetic data are produced that need careful curation. We discuss methods for accurately assessing t...

journal_title：Human mutation

authors： Smith ED,Radtke K,Rossi M,Shinde DN,Darabi S,El-Khechen D,Powis Z,Helbig K,Waller K,Grange DK,Tang S,Farwell Hagman KD

更新日期：2017-05-01 00:00:00

abstract：:Aminoacyl-tRNA synthetases (ARSs) canonical function is to conjugate specific amino acids to cognate tRNA that are required for the first step of protein synthesis. Genetic mutations that cause dysfunction or absence of ARSs result in various neurodevelopmental disorders. The human phenylalanine-tRNA synthetase (PheRS...

journal_title：Human mutation

authors： Zadjali F,Al-Yahyaee A,Al-Nabhani M,Al-Mubaihsi S,Gujjar A,Raniga S,Al-Maawali A

更新日期：2018-10-01 00:00:00

abstract：:The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established according to the NIH consensus criteria in 100 individuals, while 8 were ...

journal_title：Human mutation

authors： Origone P,De Luca A,Bellini C,Buccino A,Mingarelli R,Costabel S,La Rosa C,Garrè C,Coviello DA,Ajmar F,Dallapiccola B,Bonioli E

更新日期：2002-07-01 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：:Determining the haplotypes in a diploid individual is a major technical challenge in genetic studies of human complex traits. Here we report a method of molecular haplotyping by directly imaging multiple polymorphic sites on individual DNA molecules simultaneously. DNA fragments amplified by long-range PCR were labele...

journal_title：Human mutation

authors： Xiao M,Gordon MP,Phong A,Ha C,Chan TF,Cai D,Selvin PR,Kwok PY

更新日期：2007-09-01 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