Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.

abstract：:Although large deletions from the coagulation factor VIII gene, F8, are responsible for 5% of severe hemophilia A (seHA), few of them have been fully characterised. A detailed description of a large partial deletion of the F8 caused by unequal recombination between homeologous AluSx-derived sequences is presented. The...

journal_title：Human mutation

authors： Rossetti LC,Goodeve A,Larripa IB,De Brasi CD

更新日期：2004-11-01 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：:The mitochondrial mutation A3243G has been shown to be associated with a syndrome of diabetes mellitus and sensorineural hearing loss. Using a solid-phase-based sequencing method we have investigated the relation between the proportion of mutant mitochondrial genomes and the time of disease onset among members of thre...

journal_title：Human mutation

authors： Olsson C,Zethelius B,Lagerström-Fermér M,Asplund J,Berne C,Landegren U

更新日期：1998-01-01 00:00:00

abstract：:Mutations in matrilin-3 have been associated with common skeletal diseases like osteoarthritis as well as with the rare chondrodysplasias MED and SEMD. We have previously shown that the mutations p.R116W and p.C299S, associated with MED and SEMD, respectively, cause retention of matrilin-3 within the endoplasmic retic...

journal_title：Human mutation

authors： Otten C,Hansen U,Talke A,Wagener R,Paulsson M,Zaucke F

更新日期：2010-03-01 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：:Mutations in the ATM gene are responsible for the autosomal recessive syndrome Ataxia Telangiectasia (AT). In a group of 26 classical AT Italian patients studied by protein truncation test (PTT), we identified six new mutations, never reported so far. Mutations -spread over the entire ATM coding sequence with not clea...

journal_title：Human mutation

authors： Saviozzi S,Saluto A,Piane M,Prudente S,Migone N,DeMarchi M,Brusco A,Chessa L

更新日期：2003-04-01 00:00:00

abstract：:Genotyping efforts in hemophilia A (HA) populations in many countries have identified large numbers of unique mutations in the Factor VIII gene (F8). To assist HA researchers conducting genotyping analyses, we have developed a listing of F8 mutations including those listed in existing locus-specific databases as well ...

journal_title：Human mutation

authors： Payne AB,Miller CH,Kelly FM,Michael Soucie J,Craig Hooper W

更新日期：2013-02-01 00:00:00

abstract：:The dramatic advances in genetic sequencing technologies used in research laboratories are now entering the clinic, and applications of whole-genome and whole-exome sequencing to disease diagnosis, predisposition, and treatment will soon be commonplace. However, the standards and methods for identifying clinically rel...

journal_title：Human mutation

authors： Stanley CM,Sunyaev SR,Greenblatt MS,Oetting WS

更新日期：2014-04-01 00:00:00

abstract：:Multiplex ligation-dependent probe amplification (MLPA) is widely used to screen genes of interest for deletions and duplications. Since MLPA is usually based on size-separation of the amplification products, the maximum number of target sequences that can be screened in parallel is usually limited to approximately 40...

journal_title：Human mutation

authors： Zeng F,Ren ZR,Huang SZ,Kalf M,Mommersteeg M,Smit M,White S,Jin CL,Xu M,Zhou DW,Yan JB,Chen MJ,van Beuningen R,Huang SZ,den Dunnen J,Zeng YT,Wu Y

更新日期：2008-01-01 00:00:00

abstract：:Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequence change N314D. ...

journal_title：Human mutation

authors： Greber-Platzer S,Guldberg P,Scheibenreiter S,Item C,Schuller E,Patel N,Strobl W

更新日期：1997-01-01 00:00:00

abstract：:Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally by neurological and sensory impairment, cachectic dwarfism, and photosensitivity. This rare disease is linked to mutations in the CSB/ERCC6 and CSA/ERCC8 genes encoding proteins involved in the transcription-coupled DNA repair p...

journal_title：Human mutation

authors： Laugel V,Dalloz C,Durand M,Sauvanaud F,Kristensen U,Vincent MC,Pasquier L,Odent S,Cormier-Daire V,Gener B,Tobias ES,Tolmie JL,Martin-Coignard D,Drouin-Garraud V,Heron D,Journel H,Raffo E,Vigneron J,Lyonnet S,Murday

更新日期：2010-02-01 00:00:00

abstract：:We have established the experimental conditions to screen twenty regions of the dystrophin gene using the method of single-strand conformational polymorphism (SSCP) analysis. The aim of this study was to identify point mutations in patients with Duchenne or Becker muscular dystrophy (DMD or BMD) who have no gross DNA ...

journal_title：Human mutation

authors： Tuffery S,Moine P,Demaille J,Claustres M

更新日期：1993-01-01 00:00:00

abstract：:The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investiga...

journal_title：Human mutation

authors： Pezzetti F,Martinelli M,Scapoli L,Carinci F,Palmieri A,Marchesini J,Carinci P,Caramelli E,Rullo R,Gombos F,Tognon M

更新日期：2004-07-01 00:00:00

abstract：:XRCC2 genetic variants have been associated with breast cancer susceptibility. However, association studies have been complicated because XRCC2 variants are extremely rare and consist mainly of amino acid substitutions whose grouping is sensitive to misclassification by the predictive algorithms. We therefore function...

journal_title：Human mutation

authors： Hilbers FS,Luijsterburg MS,Wiegant WW,Meijers CM,Völker-Albert M,Boonen RA,van Asperen CJ,Devilee P,van Attikum H

更新日期：2016-09-01 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：:Germline mutations in the BRCA2 gene have been shown to be associated with familial female and male breast cancer. Mutations occur throughout the entire coding region of the gene, and there is considerable ethnic and geographical diversity in the deleterious mutations detected in different populations. No data exist o...

journal_title：Human mutation

authors： Hadjisavvas A,Charalambous E,Adamou A,Christodoulou CG,Kyriacou K

更新日期：2003-02-01 00:00:00

abstract：:Several sequence changes have been reported in hereditary angioedema patients in intron 2 of the SERPING1/C1NH gene, but their consequences on splicing have not been determined. We examined in cell transfection assays the consequences at the mRNA level of splicing mutations affecting either the +3 or the +5 donor site...

journal_title：Human mutation

authors： Duponchel C,Djenouhat K,Frémeaux-Bacchi V,Monnier N,Drouet C,Tosi M

更新日期：2006-03-01 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：:Disease gene discovery has been transformed by affordable sequencing of exomes and genomes. Identification of disease-causing mutations requires sifting through a large number of sequence variants. A subset of the variants are unlikely to be good candidates for disease causation based on one or more of the following c...

journal_title：Human mutation

authors： Fuentes Fajardo KV,Adams D,NISC Comparative Sequencing Program.,Mason CE,Sincan M,Tifft C,Toro C,Boerkoel CF,Gahl W,Markello T

更新日期：2012-04-01 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：:Accurate mitochondrial DNA (mtDNA) variant annotation is essential for the clinical diagnosis of diverse human diseases. Substantial challenges to this process include the inconsistency in mtDNA nomenclatures, the existence of multiple reference genomes, and a lack of reference population frequency data. Clinicians ne...

journal_title：Human mutation

authors： Shen L,Attimonelli M,Bai R,Lott MT,Wallace DC,Falk MJ,Gai X

更新日期：2018-06-01 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：:Rare sequence variants in "high-risk" disease genes, often referred as unclassified variants (UVs), pose a serious challenge to genetic testing. However, UVs resulting in splicing alterations can be readily assessed by in vitro assays. Unfortunately, analytical and clinical interpretation of these assays is often chal...

journal_title：Human mutation

authors： de Garibay GR,Acedo A,García-Casado Z,Gutiérrez-Enríquez S,Tosar A,Romero A,Garre P,Llort G,Thomassen M,Díez O,Pérez-Segura P,Díaz-Rubio E,Velasco EA,Caldés T,de la Hoya M

更新日期：2014-01-01 00:00:00

abstract：:Study of two families containing individuals with nephrogenic diabetes insipidus (NDI) indicated different types of 21.3 kb and 26.3 kb deletions involving the AVPR2 and ARHGAP4 (RhoGAP C1) genes. In the case of the 21.3 kb deletion, the deletion consensus motif (5'-TGAAGG-3') and polypurine runs, known as the arrest ...

journal_title：Human mutation

authors： Demura M,Takeda Y,Yoneda T,Furukawa K,Usukura M,Itoh Y,Mabuchi H

更新日期：2002-01-01 00:00:00

abstract：:Genetic disorders are often caused by nonsynonymous nucleotide changes in one or more genes associated with the disease. Specific amino acid changes, however, can lead to large variability of phenotypic expression. For many genetic disorders this results in an increasing amount of publications describing phenotype-ass...

journal_title：Human mutation

authors： Kuipers R,van den Bergh T,Joosten HJ,Lekanne dit Deprez RH,Mannens MM,Schaap PJ

更新日期：2010-09-01 00:00:00

abstract：:Expanded mutation detection and novel gene discovery for isolated polycystic liver disease (PCLD) are necessary as 50% of cases do not have identified mutations in the seven published disease genes. We investigated a family with five affected siblings for which no loss-of-function variants were identified by whole exo...

journal_title：Human mutation

authors： Besse W,Choi J,Ahram D,Mane S,Sanna-Cherchi S,Torres V,Somlo S

更新日期：2018-03-01 00:00:00

abstract：:Advanced prostate cancer (PCa) has emerged as a public health concern due to population aging. Although androgen deprivation has proven efficacy in this condition, most advanced PCa patients will have to face failure of androgen deprivation as a treatment. Mutations in the androgen receptor (AR) from tumor cells have ...

journal_title：Human mutation

authors： Marcias G,Erdmann E,Lapouge G,Siebert C,Barthélémy P,Duclos B,Bergerat JP,Céraline J,Kurtz JE

更新日期：2010-01-01 00:00:00

abstract：:Autosomal recessive limb gird muscular dystrophy (LGMD2) is a clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of the proximal limb muscles. At least eight genetic loci leading to LGMD2 are recognized. The proportion of particular gene involved in pr...

journal_title：Human mutation

authors： Pogoda TV,Krakhmaleva IN,Lipatova NA,Shakhovskaya NI,Shishkin SS,Limborska SA

更新日期：2000-03-01 00:00:00

abstract：:GRB-associated binding protein 2 (GAB2) was recently reported to be a modifier of late-onset Alzheimer dementia (AD) risk in carriers of the APOE epsilon4 allele in a genome-wide association analysis. We aimed to investigate this association in a well-characterized Belgian late-onset AD patient/control group: 528 Belg...

journal_title：Human mutation

authors： Sleegers K,Bettens K,Brouwers N,Engelborghs S,van Miegroet H,De Deyn PP,Van Broeckhoven C

更新日期：2009-02-01 00:00:00

abstract：:Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic mutations but little is known about the mutational burden in different ti...

journal_title：Human mutation

authors： Juvonen V,Nikoskelainen E,Lamminen T,Penttinen M,Aula P,Savontaus ML

更新日期：1997-01-01 00:00:00