Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.

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：:Denaturing HPLC (DHPLC) is a useful technique for the fast screening of known and unknown heterozygous gene mutations. Most DNA mutations causing genetic disorders consist of nucleotide substitutions, but insertions and deletions occur, albeit less frequently. The heteroduplexes with insertions/deletions have gaps tha...

journal_title：Human mutation

authors： Cremonesi L,Stenirri S,Fermo I,Paroni R,Ferrari M,Cazzola M,Arosio P

更新日期：2003-07-01 00:00:00

abstract：:Both the mutational status and the specific mutation of TP53 (p53) have been shown to impact both tumor prognosis and response to therapies. Molecular profiling of solid tumors is confounded by infiltrating wild-type cells, since normal DNA can interfere with detection of mutant sequences. Our objective was to identif...

journal_title：Human mutation

authors： Favis R,Huang J,Gerry NP,Culliford A,Paty P,Soussi T,Barany F

更新日期：2004-07-01 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：:The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of plasma samples followed by immunoblotting. The frequency of apo A-IV alleles was f(A-IV1) = 0.95, f(A-IV2) = 0.039 and f(A-IV3) = 0.002. This frequency distribution is significant...

journal_title：Human mutation

authors： Menzel HJ,Dieplinger H,Sandholzer C,Karádi I,Utermann G,Császár A

更新日期：1995-01-01 00:00:00

abstract：:Autosomal ancestry informative markers (AIMs) are useful for inferring individual biogeographical ancestry (I-BGA) and admixture. Ancestry estimates obtained from Y and mtDNA are useful for reconstructing population expansions and migrations in our recent past but individual genomic admixture estimates are useful to t...

journal_title：Human mutation

authors： Halder I,Shriver M,Thomas M,Fernandez JR,Frudakis T

更新日期：2008-05-01 00:00:00

abstract：:Generalized glucocorticoid resistance is associated with glucocorticoid receptor (GR; NR3C1) mutations. Three novel heterozygous missense NR3C1 mutations (R477S, Y478C, and L672P) were identified in patients presenting with adrenal incidentalomas, glucocorticoid excess without Cushing syndrome. Dexamethasone (DXM) bin...

journal_title：Human mutation

authors： Vitellius G,Fagart J,Delemer B,Amazit L,Ramos N,Bouligand J,Le Billan F,Castinetti F,Guiochon-Mantel A,Trabado S,Lombès M

更新日期：2016-08-01 00:00:00

abstract：:Isolated methylmalonic aciduria (MMA) is an autosomal-recessive disorder of propionate metabolism that is most commonly caused by mutations in the methylmalonyl-CoA mutase (MUT) gene (mut-type MMA). We investigated a cohort of 151 patients, classifying 114 patients as mut(0) and 32 as mut(-) (five not defined). As per...

journal_title：Human mutation

authors： Forny P,Schnellmann AS,Buerer C,Lutz S,Fowler B,Froese DS,Baumgartner MR

更新日期：2016-08-01 00:00:00

abstract：:The 22q11.2 deletion syndrome (22q11DS) affects 1:4,000 live births and presents with highly variable phenotype expressivity. In this study, we developed an analytical approach utilizing whole-genome sequencing (WGS) and integrative analysis to discover genetic modifiers. Our pipeline combined available tools in order...

journal_title：Human mutation

authors： Chung JH,Cai J,Suskin BG,Zhang Z,Coleman K,Morrow BE

更新日期：2015-08-01 00:00:00

abstract：:The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from total aniridia to ...

journal_title：Human mutation

authors： Sale MM,Craig JE,Charlesworth JC,FitzGerald LM,Hanson IM,Dickinson JL,Matthews SJ,Heyningen Vv Vv,Fingert JH,Mackey DA

更新日期：2002-10-01 00:00:00

abstract：:Mucolipidosis (ML) II and MLIII alpha/beta are two pediatric lysosomal storage disorders caused by mutations in the GNPTAB gene, which encodes an α/β-subunit precursor protein of GlcNAc-1-phosphotransferase. Considerable variations in the onset and severity of the clinical phenotype in these diseases are observed. We ...

journal_title：Human mutation

authors： De Pace R,Coutinho MF,Koch-Nolte F,Haag F,Prata MJ,Alves S,Braulke T,Pohl S

更新日期：2014-03-01 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：:In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which predicts a Val-->Leu aminoacid substitution at codon 12. We designated this varia...

journal_title：Human mutation

authors： Galanello R,Loi D,Sollaino C,Dessì S,Cao A,Melis MA

更新日期：1998-01-01 00:00:00

abstract：:The Enzymatic Mutation Detection (EMDtrade mark) method is a streamlined and improved version of the original Enzymatic Cleavage of Mismatch (EMC) method. EMD is a fully homogeneous, rapid four step procedure that allows for detection and localization of mismatched or unmatched nucleotides within heteroduplex DNA. To ...

journal_title：Human mutation

authors： Youil R,Toner TJ,Bull E,Bailey AL,Earl CD,Dietz HC,Montgomery RA

更新日期：2000-07-01 00:00:00

abstract：:The abundantly expressed calcium/calmodulin-dependent protein kinase II (CAMK2), alpha (CAMK2A), and beta (CAMK2B) isoforms are essential for learning and memory formation. Recently, a de novo candidate mutation (p.Arg292Pro) in the gamma isoform of CAMK2 (CAMK2G) was identified in a patient with severe intellectual d...

journal_title：Human mutation

authors： Proietti Onori M,Koopal B,Everman DB,Worthington JD,Jones JR,Ploeg MA,Mientjes E,van Bon BW,Kleefstra T,Schulman H,Kushner SA,Küry S,Elgersma Y,van Woerden GM

更新日期：2018-12-01 00:00:00

abstract：:Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accurate method to detec...

journal_title：Human mutation

authors： Shi J,Shibayama A,Liu Q,Nguyen VQ,Feng J,Santos M,Temudo T,Maciel P,Sommer SS

更新日期：2005-05-01 00:00:00

abstract：:Alzheimer disease (AD) is a complex neurodegenerative disorder predisposed by multiple genetic factors. Mutations in amyloid beta precursor protein (APP) are known to be associated with autosomal dominant, early onset familial AD and possibly also late onset AD (LOAD). A number of genes encoding proteins capable of bi...

journal_title：Human mutation

authors： Li Y,Hollingworth P,Moore P,Foy C,Archer N,Powell J,Nowotny P,Holmans P,O'Donovan M,Tacey K,Doil L,van Luchene R,Garcia V,Rowland C,Lau K,Cantanese J,Sninsky J,Hardy J,Thal L,Morris JC,Goate A,Lovestone S,Owen

更新日期：2005-03-01 00:00:00

abstract：:We have analyzed DNA from peripheral blood of 42 cases of familial melanoma for germline mutations in exon 15 of the BRAF gene. No evidence of mutation was found. We have also analyzed DNA extracted from secondary melanoma from two members of these families. These results were also negative. In addition we have search...

journal_title：Human mutation

authors： Lang J,Boxer M,MacKie R

更新日期：2003-03-01 00:00:00

abstract：:Prioritizing missense variants for further experimental investigation is a key challenge in current sequencing studies for exploring complex and Mendelian diseases. A large number of in silico tools have been employed for the task of pathogenicity prediction, including PolyPhen-2, SIFT, FatHMM, MutationTaster-2, Mutat...

journal_title：Human mutation

authors： Grimm DG,Azencott CA,Aicheler F,Gieraths U,MacArthur DG,Samocha KE,Cooper DN,Stenson PD,Daly MJ,Smoller JW,Duncan LE,Borgwardt KM

更新日期：2015-05-01 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：:Inherited genetic risk factors contribute toward breast cancer (BC) onset. BC risk variants can be divided into three categories of penetrance (high, moderate, and low) that reflect the probability of developing the disease. Traditional BC susceptibility gene discovery approaches that searched for high- and moderate-r...

journal_title：Human mutation

authors： Chandler MR,Bilgili EP,Merner ND

更新日期：2016-09-01 00:00:00

abstract：:The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixty-nine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain coding region (exon...

journal_title：Human mutation

authors： Baris O,Delettre C,Amati-Bonneau P,Surget MO,Charlin JF,Catier A,Derieux L,Guyomard JL,Dollfus H,Jonveaux P,Ayuso C,Maumenee I,Lorenz B,Mohammed S,Tourmen Y,Bonneau D,Malthièry Y,Hamel C,Reynier P

更新日期：2003-06-01 00:00:00

abstract：:The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are n...

journal_title：Human mutation

authors： Patrinos GP,Smith TD,Howard H,Al-Mulla F,Chouchane L,Hadjisavvas A,Hamed SA,Li XT,Marafie M,Ramesar RS,Ramos FJ,de Ravel T,El-Ruby MO,Shrestha TR,Sobrido MJ,Tadmouri G,Witsch-Baumgartner M,Zilfalil BA,Auerbach AD,Ca

更新日期：2012-11-01 00:00:00

abstract：:Mitochondria are involved in cellular energy production via oxidative phosphorylation and this function may be damaged by any mutation in mitochondrial DNA (mtDNA). To identify novel mtDNA mutations, we have developed a program to systematically screen the entire mitochondrial genome in a large number of individuals w...

journal_title：Human mutation

authors： Crimi M,Sciacco M,Galbiati S,Bordoni A,Malferrari G,Del Bo R,Biunno I,Bresolin N,Comi GP

更新日期：2002-11-01 00:00:00

abstract：:Cystic fibrosis, the most common lethal genetic disease in the white population, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Analysis of DNA from a pancreatic insufficient patient by chemical mismatch cleavage and subsequent DNA sequencing led to the identification of...

journal_title：Human mutation

authors： Strong TV,Smit LS,Nasr S,Wood DL,Cole JL,Iannuzzi MC,Stern RC,Collins FS

更新日期：1992-01-01 00:00:00

abstract：:Human alcohol dehydrogenases (ADHs) play important roles in metabolizing alcohol, and several lines of evidence suggest that variations in ADH genes affect the risk for alcoholism. Differences in regulatory sequences could affect the expression of ADH genes and thereby modify the risk for alcoholism. To explore this i...

journal_title：Human mutation

authors： Chen HJ,Tian H,Edenberg HJ

更新日期：2005-02-01 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：: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：:Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expanded the spectrum of S...

journal_title：Human mutation

authors： Tessa A,Fiermonte G,Dionisi-Vici C,Paradies E,Baumgartner MR,Chien YH,Loguercio C,de Baulny HO,Nassogne MC,Schiff M,Deodato F,Parenti G,Rutledge SL,Vilaseca MA,Melone MA,Scarano G,Aldamiz-Echevarría L,Besley G,Walter

更新日期：2009-05-01 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