Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.

abstract：:Human malignant infantile osteopetrosis (arOP) is a genetically heterogeneous autosomal recessive disorder of bone metabolism. The TCIRG1 gene, encoding the a3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, is responsible for more than one-half of the arOP patie...

journal_title：Human mutation

authors： Susani L,Pangrazio A,Sobacchi C,Taranta A,Mortier G,Savarirayan R,Villa A,Orchard P,Vezzoni P,Albertini A,Frattini A,Pagani F

更新日期：2004-09-01 00:00:00

abstract：:With the exponential reduction of the cost of next-generation sequencing (NGS), it is no longer the generation of data but the analysis and interpretation of massive amounts of sequencing data that are seen as key challenges for the effective integration of these technologies into clinical practice. Clinical geneticis...

journal_title：Human mutation

authors： Smith A,Boycott KM,Jarinova O

更新日期：2014-02-01 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：:Tuberous sclerosis complex (TSC) is a dominantly inherited multisystem disorder resulting in the development of hamartomatous growths in many organs. Genetic heterogeneity has been demonstrated linking the familial cases to either TSC1 at 9q34.3, or TSC2 at 16p13.3. About two-thirds of the TSC cases are sporadic and a...

journal_title：Human mutation

authors： Beauchamp RL,Banwell A,McNamara P,Jacobsen M,Higgins E,Northrup H,Short P,Sims K,Ozelius L,Ramesh V

更新日期：1998-01-01 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：:Here we analyze the genetic and molecular basis responsible for a very benign phenotype observed in an NF1 patient. Quantification of cells carrying the NF1 mutation in different samples derived from the three embryonic layers revealed mosaicism. Furthermore, the construction of a minigene with patient's mutation (c.3...

journal_title：Human mutation

authors： Fernández-Rodríguez J,Castellsagué J,Benito L,Benavente Y,Capellá G,Blanco I,Serra E,Lázaro C

更新日期：2011-07-01 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：:Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder with four causative genes (SLC20A2, PDGFRB, PDGFB, and XPR1) that have been identified. Here, we aim to describe the mutational spectrum of four causative genes in a series of 226 unrelated Chinese PFBC patients. Mutations in four causati...

journal_title：Human mutation

authors： Guo XX,Zou XH,Wang C,Yao XP,Su HZ,Lai LL,Chen HT,Lai JH,Liu YB,Chen DP,Deng YC,Lin P,Lin HS,Hong BC,Yao QY,Chen XJ,Huang DQ,Fu HX,Peng JD,Niu YF,Zhao YY,Zhu XQ,Lu XP,Lin HL,Li YK,Liu CY,Huang GB,Wang

更新日期：2019-04-01 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：:Mouse phenotype data represents a valuable resource for the identification of disease-associated genes, especially where the molecular basis is unknown and there is no clue to the candidate gene's function, pathway involvement or expression pattern. However, until recently these data have not been systematically used ...

journal_title：Human mutation

authors： Chen CK,Mungall CJ,Gkoutos GV,Doelken SC,Köhler S,Ruef BJ,Smith C,Westerfield M,Robinson PN,Lewis SE,Schofield PN,Smedley D

更新日期：2012-05-01 00:00:00

abstract：:We have developed a novel one-step pool screening PCR procedure which is based on the principles of amplification refractory mutation system (ARMS) and competitive oligonuleotide priming (COP) PCR. In addition to the usual primers, this approach uses two allele-specific competitive oligonucleotides, one of which is 3'...

journal_title：Human mutation

authors： Orou A,Fechner B,Utermann G,Menzel HJ

更新日期：1995-01-01 00:00:00

abstract：:Two years after the first mutation on exon 7 in the carboxy-terminal part of the hinge domain (D) was reported (Behr and Loos 1992), we have identified the second mutation on exon 7 in patients with GRTH. Interestingly, our mutation it is not located in the two previously described "hot spot regions", but instead very...

journal_title：Human mutation

authors： Pohlenz J,Schönberger W,Wemme H,Winterpacht A,Wirth S,Zabel B

更新日期：1996-01-01 00:00:00

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：: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：:Familial Mediterranean fever (FMF) and Behçet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern and Mediterranean populations. FMF is a Mendelian autosomic recessive disease linked to MEFV, a gene of unknown function. BD in contrast is a polyfactorial disease associated with the ma...

journal_title：Human mutation

authors： Touitou I,Magne X,Molinari N,Navarro A,Quellec AL,Picco P,Seri M,Ozen S,Bakkaloglu A,Karaduman A,Garnier JM,Demaille J,Koné-Paut I

更新日期：2000-09-01 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 recommendations for the description of sequence variants from the Human Genome Variation Society (HGVS) were published in 2000. Over the years, the recommendations became widely adopted, especially in human clinical genetics and DNA laboratory reporting. As part of a testing scheme performed by the United Kingdom ...

journal_title：Human mutation

authors： Deans ZC,Fairley JA,den Dunnen JT,Clark C

更新日期：2016-06-01 00:00:00

abstract：:Although most of the pertinent data on the sequence-directed processes leading to genome rearrangements (GRs) have come from studies on somatic tissues, little is known about GRs in the germ line of patients with hereditary disorders. This study aims at identifying DNA motifs and higher order structures of genome arch...

journal_title：Human mutation

authors： Kovac MB,Kovacova M,Bachraty H,Bachrata K,Piscuoglio S,Hutter P,Ilencikova D,Bartosova Z,Tomlinson I,Roethlisberger B,Heinimann K

更新日期：2015-02-01 00:00:00

abstract：:Cystic fibrosis (CF) is caused by mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) that codes for a cAMP-regulated chloride channel. The R347P is a missense mutation located within the first membrane spanning domain (MSD1) of the CFTR protein. This mutation occurs with an overal...

journal_title：Human mutation

authors： Varon R,Stuhrmann M,Macek M Jr,Kufardjieva A,Angelicheva D,Magdorf K,Jordanova A,Savov A,Wahn U,Macek M

更新日期：1995-01-01 00:00:00

abstract：:Adams-Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. Data ...

journal_title：Human mutation

authors： Meester JAN,Sukalo M,Schröder KC,Schanze D,Baynam G,Borck G,Bramswig NC,Duman D,Gilbert-Dussardier B,Holder-Espinasse M,Itin P,Johnson DS,Joss S,Koillinen H,McKenzie F,Morton J,Nelle H,Reardon W,Roll C,Salih MA,Sa

更新日期：2018-09-01 00:00:00

abstract：:A defect of the dolichyl-P-Man:Man5GlcNAc2-PP-dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L) causes congenital disorder of glycosylation type Id (CDG-Id). In this work, a new mutation in the ALG3 gene causing atypical splicing is described with characterization of expression levels and transcript...

journal_title：Human mutation

authors： Denecke J,Kranz C,Kemming D,Koch HG,Marquardt T

更新日期：2004-05-01 00:00:00

abstract：:Though many mutations have been identified to be associated with the occurrence of congenital cataract, pathogenic loci in some affected families are still unknown. Clinical data and genomic DNA were collected from a four-generation Chinese family. Candidate mutations were independently verified for cosegregation in t...

journal_title：Human mutation

authors： Sun M,Chen C,Hou S,Li X,Wang H,Zhou J,Chen X,Liu P,Kijlstra A,Lin S,Ye J

更新日期：2019-04-01 00:00:00

abstract：:The Human Variome Project (HVP) is an international consortium of clinicians, geneticists, and researchers from over 30 countries, aiming to facilitate the establishment and maintenance of standards, systems, and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease....

journal_title：Human mutation

authors： Pan M,Cong P,Wang Y,Lin C,Yuan Y,Dong J,Banerjee S,Zhang T,Chen Y,Zhang T,Chen M,Hu P,Zheng S,Zhang J,Qi M

更新日期：2011-12-01 00:00:00

abstract：:Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. We describe a novel missense mutation in exon 6 causing the substitution of Asp335 by Val. In transient transfections no enzyme activity could be expressed from the arylsulfatase A cDNA carrying this mutation. Exa...

journal_title：Human mutation

authors： Hess B,Kafert S,Heinisch U,Wenger DA,Zlotogora J,Gieselmann V

更新日期：1996-01-01 00:00:00

abstract：:We have analysed 194 Belgian CF chromosomes using a variety of techniques: delta F508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G-->A, and N1303K; molecular defects in exons 2, 3, 4, 5, 6b, 7, 11, 12, 13, 14a, 14b, 17b, 19, 20, and...

journal_title：Human mutation

authors： Mercier B,Lissens W,Audrézet MP,Bonduelle M,Liebaers I,Ferec C

更新日期：1993-01-01 00:00:00

abstract：:Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating point mutations are ...

journal_title：Human mutation

authors： Krone N,Braun A,Roscher AA,Schwarz HP

更新日期：1999-01-01 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：: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：:Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutat...

journal_title：Human mutation

authors： van den Hurk JA,Schwartz M,van Bokhoven H,van de Pol TJ,Bogerd L,Pinckers AJ,Bleeker-Wagemakers EM,Pawlowitzki IH,Rüther K,Ropers HH,Cremers FP

更新日期：1997-01-01 00:00:00

abstract：:Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. In this paper we describe 12 IRIDA patients belonging to 7 unrelated families and identify 10 (9 novel) TMPRSS6 mutations spread along th...

journal_title：Human mutation

authors： De Falco L,Totaro F,Nai A,Pagani A,Girelli D,Silvestri L,Piscopo C,Campostrini N,Dufour C,Al Manjomi F,Minkov M,Van Vuurden DG,Feliu A,Kattamis A,Camaschella C,Iolascon A

更新日期：2010-05-01 00:00:00