A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

abstract：:Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in many organs. Two genes responsible for TSC, TSC1 and TSC2, were recently identified. TSC1 and TSC2 encode the proteins hamartin and tuberin, respectively, and 337 different mutations have been reported in these genes thus...

journal_title：Human mutation

authors： Feng JH,Yamamoto T,Nanba E,Ninomiya H,Oka A,Ohno K

更新日期：2004-04-01 00:00:00

abstract：:A broad region of chromosome 10 (chr10) has engendered continued interest in the etiology of late-onset Alzheimer Disease (LOAD) from both linkage and candidate gene studies. However, there is a very extensive heterogeneity on chr10. We converged linkage analysis and gene expression data using the concept of genomic c...

journal_title：Human mutation

authors： Liang X,Slifer M,Martin ER,Schnetz-Boutaud N,Bartlett J,Anderson B,Züchner S,Gwirtsman H,Gilbert JR,Pericak-Vance MA,Haines JL

更新日期：2009-03-01 00:00:00

abstract：:The p53 tumor suppressor gene has proven to be one of the genes most often mutated in human cancers. It involves mainly point mutations leading to amino acid substitutions in the central region of the protein which impairs normal functions. Analysis of the mutational events that target the p53 gene has revealed eviden...

journal_title：Human mutation

authors： Soussi T,Dehouche K,Béroud C

更新日期：2000-01-01 00:00:00

abstract：:We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families. Novel mutations were found in two of these families. The third is a previously reported mutation (G-->A transition at nt 1444) (Nakano et al., 1988). Direct sequencing of PCR produc...

journal_title：Human mutation

authors： Akalin N,Shi HP,Vavougios G,Hechtman P,Lo W,Scriver CR,Mahuran D,Kaplan F

更新日期：1992-01-01 00:00:00

abstract：:Recent advances in fluorescent dyes, methods, instruments and software for DNA melting analysis have created versatile new tools for variant scanning and genotyping. High resolution melting analysis (HRM or HRMA) is faster, simpler, and less expensive than alternative approaches requiring separations or labeled probes...

journal_title：Human mutation

authors： Wittwer CT

更新日期：2009-06-01 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：: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 correction of premature termination codons (PTCs) by agents that promote readthrough represents a promising emerging tool for the treatment of many genetic diseases. The efficiency of the treatment, however, varies depending on the stop codon itself and the amount of correctible transcripts related to the efficien...

journal_title：Human mutation

authors： Hinzpeter A,Aissat A,de Becdelièvre A,Bieth E,Sondo E,Martin N,Costes B,Costa C,Goossens M,Galietta LJ,Girodon E,Fanen P

更新日期：2013-02-01 00:00:00

abstract：:The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter region and coding s...

journal_title：Human mutation

authors： Kuhrová V,Francová H,Zapletalová P,Freiberger T,Fajkusová L,Hrabincová E,Slováková R,Kozák L

更新日期：2001-09-01 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：: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：:Mutations in the KCNJ13 gene that encodes the inwardly rectifying potassium channel Kir7.1 cause snowflake vitreoretinal degeneration (SVD) and leber congenital amaurosis (LCA). Kir7.1 controls the microenvironment between the photoreceptors and the retinal pigment epithelium (RPE) and also contributes to the function...

journal_title：Human mutation

authors： Pattnaik BR,Shahi PK,Marino MJ,Liu X,York N,Brar S,Chiang J,Pillers DA,Traboulsi EI

更新日期：2015-07-01 00:00:00

abstract：:Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering ...

journal_title：Human mutation

authors： Cvačková Z,Matějů D,Staněk D

更新日期：2014-03-01 00:00:00

abstract：:We report a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). We describe two probands: one with a de novo frameshift (NM_002140.3: c.953+1dup), and the other with a de novo splice donor site variant (NM_002140.3: c.257G>A). Both probands have intellectual di...

journal_title：Human mutation

authors： Au PYB,You J,Caluseriu O,Schwartzentruber J,Majewski J,Bernier FP,Ferguson M,Care for Rare Canada Consortium.,Valle D,Parboosingh JS,Sobreira N,Innes AM,Kline AD

更新日期：2015-10-01 00:00:00

abstract：:Head and neck cancer is an important health problem around the world, accounting for approximately 500,000 new cases each year of head and neck squamous cell carcinoma (HNSCC). Carcinogenesis of head and neck results from a dysregulation of cellular proliferation, differentiation, and cell death. The major etiologic a...

journal_title：Human mutation

authors： Blons H,Laurent-Puig P

更新日期：2003-03-01 00:00:00

abstract：:Several recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases. The affected residue falls within the DNA-binding domain of the NR5A1 protein, however the exact mechanism by which i...

journal_title：Human mutation

authors： Knarston IM,Robevska G,van den Bergen JA,Eggers S,Croft B,Yates J,Hersmus R,Looijenga LHJ,Cameron FJ,Monhike K,Ayers KL,Sinclair AH

更新日期：2019-02-01 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：:Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO). We performed whole-exome and Sanger sequencing to identify suspected causative variants in 414 idiopathic participating infertile men with SO or azoospermia. Three novel homo...

journal_title：Human mutation

authors： Hu TY,Zhang H,Meng LL,Yuan SM,Tu CF,Du J,Lu GX,Lin G,Nie HC,Tan YQ

更新日期：2020-11-10 00:00:00

abstract：:Screening for disease-causing mutations in the duplicated region of the PKD1 gene was performed in 17 unrelated Australian individuals with PKD1-linked autosomal dominant polycystic kidney disease. Exons 2-21 and 23-34 were assayed using PKD1-specific PCR amplification and direct sequencing. We have identified 12 nove...

journal_title：Human mutation

authors： McCluskey M,Schiavello T,Hunter M,Hantke J,Angelicheva D,Bogdanova N,Markoff A,Thomas M,Dworniczak B,Horst J,Kalaydjieva L

更新日期：2002-03-01 00:00:00

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：:Considerable differences exist for the spectrum of GJB2 mutations in different populations. Screening for the c.35delG mutation in 256 independent probands, 154 multiplex (familial) and 102 simplex (sporadic), coming from different regions of Turkey revealed 37 (14.5%) homozygotes. The allele frequency of c.35delG ran...

journal_title：Human mutation

authors： Tekin M,Duman T,Boğoçlu G,Incesulu A,Comak E,Ilhan I,Akar N

更新日期：2003-05-01 00:00:00

abstract：:Multiple variants of the vascular adhesion molecule-1 (VCAM1) promoter show increased nucleotide heterozygosity in the African American population. Using a novel transfection-based transcriptional pathway profiling method, we show that select uncommon variants are functionally hyperactive. Eight candidate VCAM1 promot...

journal_title：Human mutation

authors： Idelman G,Taylor JG,Tongbai R,Chen RA,Haggerty CM,Bilke S,Chanock SJ,Gardner K

更新日期：2007-08-01 00:00:00

abstract：:Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Variants in KCNB1 have been recently reported in patients with early-onset DEE. KCNB1 encodes the α subunit of the delayed rectifier voltage-dependent potassium channel Kv 2.1. We review the 3...

journal_title：Human mutation

authors： Bar C,Barcia G,Jennesson M,Le Guyader G,Schneider A,Mignot C,Lesca G,Breuillard D,Montomoli M,Keren B,Doummar D,Billette de Villemeur T,Afenjar A,Marey I,Gerard M,Isnard H,Poisson A,Dupont S,Berquin P,Meyer P,Gene

更新日期：2020-01-01 00:00:00

abstract：:The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with mutations in the gene encoding the enzyme uroporphyrinogen decarboxylase (UROD). Several mutations, most of which are private, have been identified in HEP and fPCT patients, confirming the heteroge...

journal_title：Human mutation

authors： Christiansen L,Ged C,Hombrados I,Brons-Poulsen J,Fontanellas A,de Verneuil H,Hørder M,Petersen NE

更新日期：1999-01-01 00:00:00

abstract：:Palindromic sequences can form hairpin structures or cruciform extrusions, which render them susceptible to genomic rearrangements. A 197-bp long palindromic AT-rich repeat (PATRR17) is located within intron 40 of the neurofibromatosis type 1 (NF1) gene (17q11.2). Through comprehensive NF1 analysis, we identified six ...

journal_title：Human mutation

authors： Hsiao MC,Piotrowski A,Alexander J,Callens T,Fu C,Mikhail FM,Claes KB,Messiaen L

更新日期：2014-07-01 00:00:00

abstract：:A third point mutation in the mitochondrial tRNA(Ile) gene associated with hypertrophic cardiomyopathy and respiratory chain dysfunction in heart is reported. An A-to-G transition at nucleotide position 4295 was shown to be highly evolutionarily conserved, never present in control individuals, and to segregate with th...

journal_title：Human mutation

authors： Merante F,Myint T,Tein I,Benson L,Robinson BH

更新日期：1996-01-01 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：: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：: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：:Several different genetic alterations in the etiology of Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]) are known, mostly point mutations and genomic rearrangements in 1 of at least 3 mismatch-repair (MMR) genes. However, no susceptibility factor has yet been identified in a significant part (30-50...

journal_title：Human mutation

authors： Kovacs ME,Papp J,Szentirmay Z,Otto S,Olah E

更新日期：2009-02-01 00:00:00