Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

abstract：:Allelic imbalance (AI) is a powerful tool to identify cis-regulatory variation for gene expression. UGT2B15 is an important enzyme involved in the metabolism of multiple endobiotics and xenobiotics. In this study, we measured the relative expression of two alleles at this gene by using SNP rs1902023:G>T. An excess of ...

journal_title：Human mutation

authors： Sun C,Southard C,Witonsky DB,Olopade OI,Di Rienzo A

更新日期：2010-01-01 00:00:00

abstract：:Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterol-emia (FH), one of the most common single gene disorders. The spectrum of LDLR mutations in Brazil is not known. The aim of this study was the characterization of LDLR mutations in 35 unrelated Brazilian patients with heterozygous FH...

journal_title：Human mutation

authors： Salazar LA,Hirata MH,Cavalli SA,Nakandakare ER,Forti N,Diament J,Giannini SD,Bertolami MC,Hirata RD

更新日期：2002-04-01 00:00:00

abstract：:The IQSEC2- related disorders represent a spectrum of X-chromosome phenotypes with intellectual disability (ID) as the cardinal feature. Here, we review the increasing number of reported families and isolated cases have been reported with a variety of different pathogenic variants. The spectrum of clinical features is...

journal_title：Human mutation

authors： Shoubridge C,Harvey RJ,Dudding-Byth T

更新日期：2019-01-01 00:00:00

abstract：:New technologies allow rapid discovery of novel sequence variants among which those involving complex structural rearrangements. The description of such complex variants challenges the existing standard sequence variation nomenclature of the Human Genome Variation Society (HGVS, http://www.hgvs.org/mutnomen), because ...

journal_title：Human mutation

authors： Taschner PE,den Dunnen JT

更新日期：2011-05-01 00:00:00

abstract：:Recessively inherited limb girdle muscular dystrophy (LGMD) type 2A is the most common LGMD worldwide. Here, we report the first single missense variant in CAPN3 causing dominantly inherited calpainopathy. A 43-year-old proband, his father and two sons were heterozygous for a c.1715G>C p.(Arg572Pro) variant in CAPN3. ...

journal_title：Human mutation

authors： Vissing J,Dahlqvist JR,Roudaut C,Poupiot J,Richard I,Duno M,Krag T

更新日期：2020-09-01 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：:Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebulin gene (NEB) in 1...

journal_title：Human mutation

authors： Lehtokari VL,Pelin K,Sandbacka M,Ranta S,Donner K,Muntoni F,Sewry C,Angelini C,Bushby K,Van den Bergh P,Iannaccone S,Laing NG,Wallgren-Pettersson C

更新日期：2006-09-01 00:00:00

abstract：:Atrioventricular septal defect (AVSD) may occur as part of a complex disorder (e.g., Down syndrome, heterotaxy), or as isolate cardiac defect. Multiple lines of evidence support a role of calcineurin/NFAT signaling in AVSD, and mutations in CRELD1, a protein functioning as a regulator of calcineurin/NFAT signaling hav...

journal_title：Human mutation

authors： Ferese R,Bonetti M,Consoli F,Guida V,Sarkozy A,Lepri FR,Versacci P,Gambardella S,Calcagni G,Margiotti K,Piceci Sparascio F,Hozhabri H,Mazza T,Digilio MC,Dallapiccola B,Tartaglia M,Marino B,Hertog JD,De Luca A

更新日期：2018-10-01 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：:Autosomal recessive spinal muscular atrophy (SMA) is a common, fatal neuromuscular disease caused by homozygous absence of the SMN1 gene in approximately 94% of patients. However, a highly homologous SMN2 gene exists in the same chromosome interval, centromeric to SMN1, and hampers detection of SMN1. We present a new,...

journal_title：Human mutation

authors： Su YN,Hung CC,Li H,Lee CN,Cheng WF,Tsao PN,Chang MC,Yu CL,Hsieh WS,Lin WL,Hsu SM

更新日期：2005-05-01 00:00:00

abstract：:We describe a rapid and simple method for phenylketonuria genotyping which identifies five point mutations within exon 12 of the human phenylalanine hydroxylase gene. The method involves PCR amplification of the target exon and hybridization with a PCR-amplifiable synthetic DNA (universal heteroduplex generator, UHG)....

journal_title：Human mutation

authors： Wood N,Tyfield L,Bidwell J

更新日期：1993-01-01 00:00:00

abstract：:Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial components of the cone phototransduction cascade (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) or in ATF6, ...

journal_title：Human mutation

authors： Mayer AK,Van Cauwenbergh C,Rother C,Baumann B,Reuter P,De Baere E,Wissinger B,Kohl S,ACHM Study Group.

更新日期：2017-11-01 00:00:00

abstract：:Neutrophil elastase gene (ELANE) mutations are responsible for the majority of cases of severe congenital neutropenia (CN) and cyclic neutropenia (CyN). We screened CN (n = 395) or CyN (n = 92) patients for ELANE mutations and investigated the impact of mutations on mRNA expression, protein expression, and activity. W...

journal_title：Human mutation

authors： Germeshausen M,Deerberg S,Peter Y,Reimer C,Kratz CP,Ballmaier M

更新日期：2013-06-01 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：:alpha 1-Antitrypsin (alpha 1AT) is one of the most polymorphic gene loci in the human genome. alpha 1AT variants are typically identified by their migration position in an isoelectric focusing gel at pH 4-5. Heterogeneity of the isoelectric point of alpha 1AT variants, hence variant migration, most often results from ...

journal_title：Human mutation

authors： Hildesheim J,Kinsley G,Bissell M,Pierce J,Brantly M

更新日期：1993-01-01 00:00:00

abstract：:The identification and interpretation of germline BRCA1/2 variants become increasingly important in breast and ovarian cancer (OC) treatment. However, there is no comprehensive analysis of the germline BRCA1/2 variants in a Chinese population. Here we performed a systematic review and meta-analysis on such variants fr...

journal_title：Human mutation

authors： Gao X,Nan X,Liu Y,Liu R,Zang W,Shan G,Gai F,Zhang J,Li L,Cheng G,Song L

更新日期：2020-03-01 00:00:00

abstract：:Disease-predisposing germline mutations in cancer susceptibility genes may consist of large genomic rearrangements that are challenging to detect and characterize using standard PCR-based mutation screening methods. Here, we describe a custom-made zoom-in microarray comparative genomic hybridization (CGH) platform of ...

journal_title：Human mutation

authors： Staaf J,Törngren T,Rambech E,Johansson U,Persson C,Sellberg G,Tellhed L,Nilbert M,Borg A

更新日期：2008-04-01 00:00:00

abstract：:The autosomal recessive lysosomal storage disorder, nephropathic cystinosis is characterized by impaired transport of free cystine out of lysosomes. The gene responsible for cystinosis, CTNS, consists of 12 exons and encodes a 55 kDa putative lysosomal membrane protein, called cystinosin. Up to now more than 55 differ...

journal_title：Human mutation

authors： Kiehntopf M,Schickel J,Gönne Bv,Koch HG,Superti-Furga A,Steinmann B,Deufel T,Harms E

更新日期：2002-09-01 00:00:00

abstract：:Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mu...

journal_title：Human mutation

authors： de Meeus A,Guittard C,Desgeorges M,Carles S,Demaille J,Claustres M

更新日期：1998-01-01 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：:In reduced representation bisulfite sequencing (RRBS), genomic DNA is digested with the restriction enzyme and then subjected to next-generation sequencing, which enables detection and quantification of DNA methylation at whole-genome scale with low cost. However, the data processing, interpretation, and analysis of t...

journal_title：Human mutation

authors： Wang T,Liu Q,Li X,Wang X,Li J,Zhu X,Sun ZS,Wu J

更新日期：2013-12-01 00:00:00

abstract：:The direct sequencing of the human type II procollagen (COL2A1) gene from polymerase chain reaction (PCR)-amplified genomic DNA is described. Thirty-two regions of the COL2A1 gene were asymmetrically amplified with intron primers which were specifically chosen to amplify a region spanning 500 to 800 bp of sequence enc...

journal_title：Human mutation

authors： Williams CJ,Harrison DA,Hopkinson I,Baldwin CT,Ahmad NN,Ala-Kokko L,Korn RM,Buxton PG,Dimascio J,Considine EL

更新日期：1992-01-01 00:00:00

abstract：:Hereditary diffuse gastric cancer (HDGC) is a cancer predisposition syndrome caused by germline mutation of the gene encoding the tumour-suppressor E-cadherin (CDH1). We describe the search for CDH1 mutations in 36 new diffuse gastric cancer families. All 16 CDH1 exons, neighbouring intronic sequence and an essential ...

journal_title：Human mutation

authors： More H,Humar B,Weber W,Ward R,Christian A,Lintott C,Graziano F,Ruzzo AM,Acosta E,Boman B,Harlan M,Ferreira P,Seruca R,Suriano G,Guilford P

更新日期：2007-02-01 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：:RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. The report was based on segregation of a missense change p.D59G with the disease in a single family and in vitro localization studies. We found the p.D59G variant by whole-exome sequencing in...

journal_title：Human mutation

authors： Ołdak M,Ścieżyńska A,Młynarski W,Borowiec M,Ruszkowska E,Szulborski K,Pollak A,Kosińska J,Mueller-Malesińska M,Stawiński P,Szaflik JP,Płoski R

更新日期：2014-10-01 00:00:00

abstract：:The CAGI-5 pericentriolar material 1 (PCM1) challenge aimed to predict the effect of 38 transgenic human missense mutations in the PCM1 protein implicated in schizophrenia. Participants were provided with 16 benign variants (negative controls), 10 hypomorphic, and 12 loss of function variants. Six groups participated ...

journal_title：Human mutation

authors： Monzon AM,Carraro M,Chiricosta L,Reggiani F,Han J,Ozturk K,Wang Y,Miller M,Bromberg Y,Capriotti E,Savojardo C,Babbi G,Martelli PL,Casadio R,Katsonis P,Lichtarge O,Carter H,Kousi M,Katsanis N,Andreoletti G,Moult J

更新日期：2019-09-01 00:00:00

abstract：:The Ataxia Telangiectasia Mutation (ATM) gene is mutated in the rare recessive syndrome Ataxia Telangiectasia (AT), which is characterized by cerebellar degeneration, immunodeficiency, and cancer predisposition. In this study, 41 AT families from Denmark, Finland, Norway, and Sweden were screened for ATM mutations. Th...

journal_title：Human mutation

authors： Laake K,Jansen L,Hahnemann JM,Brondum-Nielsen K,Lönnqvist T,Kääriäinen H,Sankila R,Lähdesmäki A,Hammarström L,Yuen J,Tretli S,Heiberg A,Olsen JH,Tucker M,Kleinerman R,Børresen-Dale AL

更新日期：2000-09-01 00:00:00

abstract：:In mammals, the p53 family comprises two additional members, p63 and p73 (hereafter referred to as TP53, TP63, and TP73, respectively). The usage of two alternative promoters produces protein variants either with (transactivating [TA] isoforms) or without (ΔN isoforms) the N-terminal transactivation domain (TAD). In g...

journal_title：Human mutation

authors： Candi E,Agostini M,Melino G,Bernassola F

更新日期：2014-06-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a genetic heterogeneous disease with high mortality and poor prognosis. However, a large fraction of genetic cause remains unexplained, especially in sporadic IPF (∼80% IPF). By systemically reviewing related literature and potential pathogenic pathways, 92 potentially IPF-relate...

journal_title：Human mutation

authors： Deng Y,Li Z,Liu J,Wang Z,Cao Y,Mou Y,Fu B,Mo B,Wei J,Cheng Z,Luo L,Li J,Shu Y,Wang X,Luo G,Yang S,Wang Y,Zhu J,Yang J,Wu M,Xu X,Ge R,Chen X,Peng Q,Wei G,Li Y,Yang H,Fang S,Zhang X,Xiong W

更新日期：2018-09-01 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