A functional assay to classify ZBTB24 missense variants of unknown significance.

abstract：:Symphalangism (SYM or SYM1) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which father and son had bilat...

journal_title：Human mutation

authors： Mangino M,Flex E,Digilio MC,Giannotti A,Dallapiccola B

更新日期：2002-03-01 00:00:00

abstract：:FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. The FRAXE mutation is an expansion of a CCG repeat that results in methylation of a nearby CpG island. FRAXE alleles could be divided into four categories: normal (6-30 ...

journal_title：Human mutation

authors： Santos CB,Costa Lima MA,Pimentel MM

更新日期：2001-08-01 00:00:00

abstract：:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurological disease with mutations in SACS, encoding sacsin, a multidomain protein of 4,579 amino acids. The large size of SACS and its translated protein has hindered biochemical analysis of ARSACS, and how mutant sacsins lead to disease remains...

journal_title：Human mutation

authors： Romano A,Tessa A,Barca A,Fattori F,de Leva MF,Terracciano A,Storelli C,Santorelli FM,Verri T

更新日期：2013-03-01 00:00:00

abstract：:Both myosin 7A (MYO7A) and calmodulin (CaM) are required for transduction and adaptation processes in inner ear hair cells. We identified a novel heterozygous missense mutation (c.2557C>T; p.R853C) in a family with autosomal dominant non-syndromic hearing loss that changes an evolutionarily invariant residue of the fi...

journal_title：Human mutation

authors： Bolz H,Bolz SS,Schade G,Kothe C,Mohrmann G,Hess M,Gal A

更新日期：2004-09-01 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：:Familial cerebral cavernous malformation (FCCM) is an autosomal dominant vascular disorder caused by heterozygous deleterious variants in KRIT1, CCM2 or PDCD10. In a previous study, we presented the clinical and molecular findings in 140 FCCM individuals. In the present work, we report supporting information on (a) ap...

journal_title：Human mutation

authors： Fusco C,Copetti M,Mazza T,Amoruso L,Mastroianno S,Nardella G,Guarnieri V,Micale L,D'Agruma L,Castori M

更新日期：2019-11-01 00:00:00

abstract：:IgA nephropathy (IgAN) is a polygenic disorder. Increasing evidence has implicated that aberrant glycosylation of IgA1 molecules, including alpha2,6 sialic acid defects, are involved in the pathogenesis of IgAN. In the present study, we designed an association study to investigate polymorphisms of two important genes,...

journal_title：Human mutation

authors： Li GS,Zhu L,Zhang H,Lv JC,Ding JX,Zhao MH,Shen Y,Wang HY

更新日期：2007-10-01 00:00:00

abstract：:We previously identified the polymorphism ss52051869 in the 3'UTR of human SLC7A1, and demonstrated that it might participate in the apparent link between altered endothelial function, decreased L-arginine and nitric oxide (NO) metabolism, and a genetic predisposition to essential hypertension. Here, we demonstrate th...

journal_title：Human mutation

authors： Yang Z,Kaye DM

更新日期：2009-03-01 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：:Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which enc...

journal_title：Human mutation

authors： Ianzano L,Young EJ,Zhao XC,Chan EM,Rodriguez MT,Torrado MV,Scherer SW,Minassian BA

更新日期：2004-02-01 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：:Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted disease characterized by severe growth delays of prenatal onset caused by mutations in the TRIM37 gene. Recent studies on the subcellular localization revealed that the TRIM37 (KIAA0898) protein is located in peroxisomes. Ther...

journal_title：Human mutation

authors： Jagiello P,Hammans C,Wieczorek S,Arning L,Stefanski A,Strehl H,Epplen JT,Gencik M

更新日期：2003-06-01 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：: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：:The evolutionary and biomedical importance of differential mRNA splicing is well established. Numerous studies have assessed patterns of differential splicing in different genes and correlated these patterns to the genotypes for adjacent single-nucleotide polymorphisms (SNPs). Here, we have chosen a reverse approach a...

journal_title：Human mutation

authors： ElSharawy A,Hundrieser B,Brosch M,Wittig M,Huse K,Platzer M,Becker A,Simon M,Rosenstiel P,Schreiber S,Krawczak M,Hampe J

更新日期：2009-04-01 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：:Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive consideration of gen...

journal_title：Human mutation

authors： Cristofoli F,Devriendt K,Davis EE,Van Esch H,Vermeesch JR

更新日期：2018-07-01 00:00:00

abstract：:Fabry disease is caused by mutations in the gene (GLA) that encodes α-galactosidase A (α-Gal A). The iminosugar AT1001 (GR181413A, migalastat hydrochloride, 1-deoxygalactonojirimycin) is a pharmacological chaperone that selectively binds and stabilizes α-Gal A, increasing total cellular levels and activity for some mu...

journal_title：Human mutation

authors： Wu X,Katz E,Della Valle MC,Mascioli K,Flanagan JJ,Castelli JP,Schiffmann R,Boudes P,Lockhart DJ,Valenzano KJ,Benjamin ER

更新日期：2011-08-01 00:00:00

abstract：:Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical examination showed thre...

journal_title：Human mutation

authors： Gu F,Luo W,Li X,Wang Z,Lu S,Zhang M,Zhao B,Zhu S,Feng S,Yan YB,Huang S,Ma X

更新日期：2008-05-01 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：: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：:In this study we genotyped Turkish breast/ovarian cancer patients for BRCA1/BRCA2 mutations: protein truncation test (PTT) for exon 11 BRCA1 of and, multiplex PCR and denaturing gradient gel electrophoresis (DGGE) for BRCA2, complemented by DNA sequencing. In addition, a modified restriction assay was used for analysi...

journal_title：Human mutation

authors： Manguoglu AE,Lüleci G,Ozçelik T,Colak T,Schayek H,Akaydin M,Friedman E

更新日期：2003-04-01 00:00:00

abstract：:Biotinidase (BTD) is the only enzyme that can cleave biocytin, a product of the proteolytic digestion of holocarboxylases. Profound BTD deficiency (less than 10% mean normal activity in serum) is an autosomal recessive disorder that can result in neurological and cutaneous abnormalities. Both the cDNA and the genomic ...

journal_title：Human mutation

authors： Hymes J,Stanley CM,Wolf B

更新日期：2001-11-01 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：: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：:microRNAs (miRNAs) are widely involved in craniofacial development, and genetic variants of miRNAs may be associated with the risk of nonsyndromic orofacial cleft (NSOC). Here, we systematically selected five single nucleotide polymorphisms (SNPs) of miRNAs and investigated the associations between these variants and ...

journal_title：Human mutation

authors： Pan Y,Li D,Lou S,Zhang C,Du Y,Jiang H,Zhang W,Ma L,Wang L

更新日期：2018-05-01 00:00:00

abstract：:Variations in mitochondrial DNA (mtDNA) cytochrome b (mt-cyb) are frequently found within the healthy population, but also occur within a spectrum of mitochondrial and common diseases. mt-cyb encodes the core subunit (MT-CYB) of complex III, a central component of the oxidative phosphorylation system that drives cellu...

journal_title：Human mutation

authors： Song Z,Laleve A,Vallières C,McGeehan JE,Lloyd RE,Meunier B

更新日期：2016-09-01 00:00:00

abstract：:NKX2-1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)-B and -C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new de novo NKX2-1 mutations c.493C>T (p.R165W) and c.786_787del2 (p.L263fs) in infants with closely similar severe interstit...

journal_title：Human mutation

authors： Guillot L,Carré A,Szinnai G,Castanet M,Tron E,Jaubert F,Broutin I,Counil F,Feldmann D,Clement A,Polak M,Epaud R

更新日期：2010-02-01 00:00:00

abstract：:Exome sequencing has been widely used to identify the genetic variants underlying human genetic disorders for clinical diagnoses, but the identification of pathogenic sequence variants among the huge amounts of benign ones is complicated and challenging. Here, we describe a new Web server named mirVAFC for pathogenic ...

journal_title：Human mutation

authors： Li Z,Liu Z,Jiang Y,Chen D,Ran X,Sun ZS,Wu J

更新日期：2017-01-01 00:00:00

abstract：:Genome sequencing identifies vast number of genetic variants. Predicting these variants' molecular and clinical effects is one of the preeminent challenges in human genetics. Accurate prediction of the impact of genetic variants improves our understanding of how genetic information is conveyed to molecular and cellula...

journal_title：Human mutation

authors： Hu Z,Yu C,Furutsuki M,Andreoletti G,Ly M,Hoskins R,Adhikari AN,Brenner SE

更新日期：2019-09-01 00:00:00