Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217

abstract：:PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1-related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs showing a "lower limb" appearance; PITX1 deletions or missense variation cause a...

journal_title：Human mutation

authors： Morel G,Duhamel C,Boussion S,Frénois F,Lesca G,Chatron N,Labalme A,Sanlaville D,Edery P,Thevenon J,Faivre L,Fassier A,Prodhomme O,Escande F,Manouvrier S,Petit F,Geneviève D,Rossi M

更新日期：2020-09-01 00:00:00

abstract：:The cellular quality control systems enable surveillance and selective degradation of nonsense, nonstop, and no-go mRNAs. In the case of nonstop mRNA, different mechanisms of nonstop-mediated decay (NSD) have been described for bacteria, yeast and mammals, but the molecular consequences of nonstop mutations have been ...

journal_title：Human mutation

authors： Torres-Torronteras J,Rodriguez-Palmero A,Pinós T,Accarino A,Andreu AL,Pintos-Morell G,Martíí R

更新日期：2011-04-01 00:00:00

abstract：:Mucopolysaccharidosis type IIIA (MPSIIIA) is an autosomal recessive lysosomal storage disease caused by mutations in the N-sulfoglucosamine sulfohydrolase gene (SGSH; encoding sulfamidase, also sulphamidase) leading to the lysosomal accumulation and urinary excretion of heparan sulfate. Considerable variation in the o...

journal_title：Human mutation

authors： Muschol N,Storch S,Ballhausen D,Beesley C,Westermann JC,Gal A,Ullrich K,Hopwood JJ,Winchester B,Braulke T

更新日期：2004-06-01 00:00:00

abstract：:The authors wish to correct a mistake which occurred in the reporting of one of the mutations. The mutation reported as 683insT is actually an insertion G mutation, and should thus be called 683insG. ...

journal_title：Human mutation

authors： Roberts R,Joyce P,Kennedy MA

更新日期：2000-01-01 00:00:00

abstract：:Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder of connective tissue, characterized by progressive calcification of the elastic fibers in the eye, the skin, and the cardiovascular system. The PXE locus has been mapped to chromosome 16p13.1, and was recently further refined to a 500 kb-region, containi...

journal_title：Human mutation

authors： Perdu J,Germain DP

更新日期：2001-01-01 00:00:00

abstract：:2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) or dioxin, is commonly considered the most toxic man-made substance. Dioxin exposure impacts human health and diseases, birth defects and teratogenesis were frequently observed in children of persons who have been exposed to dioxin. However, the impact of dioxin on human muta...

journal_title：Human mutation

authors： Ton ND,Nakagawa H,Ha NH,Duong NT,Nhung VP,Hien LTT,Hue HTT,Hoang NH,Wong JH,Nakano K,Maejima K,Sasaki-Oku A,Tsunoda T,Fujimoto A,Van Hai N

更新日期：2018-10-01 00:00:00

abstract：:We have analyzed DNA from peripheral blood of 42 cases of familial melanoma for germline mutations in exon 15 of the BRAF gene. No evidence of mutation was found. We have also analyzed DNA extracted from secondary melanoma from two members of these families. These results were also negative. In addition we have search...

journal_title：Human mutation

authors： Lang J,Boxer M,MacKie R

更新日期：2003-03-01 00:00:00

abstract：:Biomedical data sharing is desirable, but problematic. Data "discovery" approaches-which establish the existence rather than the substance of data-precisely connect data owners with data seekers, and thereby promote data sharing. Cafe Variome (http://www.cafevariome.org) was therefore designed to provide a general-pur...

journal_title：Human mutation

authors： Lancaster O,Beck T,Atlan D,Swertz M,Thangavelu D,Veal C,Dalgleish R,Brookes AJ

更新日期：2015-10-01 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：: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：:Most hereditary nonpolyposis colorectal cancer (HNPCC) patients inherit a defective allele of a mismatch repair (MMR) gene, usually MLH1 or MSH2, resulting in high levels of microsatellite instability (MSI-H) in the tumors. Presence of MSI in the normal tissues of mutation carriers has been controversial. Here we dire...

journal_title：Human mutation

authors： Coolbaugh-Murphy MI,Xu JP,Ramagli LS,Ramagli BC,Brown BW,Lynch PM,Hamilton SR,Frazier ML,Siciliano MJ

更新日期：2010-03-01 00:00:00

abstract：:Lynch syndrome (LS), the most common familial colon cancer, is associated with mismatch repair (MMR) malfunction. As mutation carriers inherit one normal and one defected MMR gene allele, cancer risk can be considered as limited amount of normal MMR gene product. How reductions in different MMR gene expressions affect...

journal_title：Human mutation

authors： Kansikas M,Kasela M,Kantelinen J,Nyström M

更新日期：2014-09-01 00:00:00

abstract：:Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal-recess...

journal_title：Human mutation

authors： Yang CF,Wang CH,Siong H'ng W,Chang CP,Lin WD,Chen YT,Wu JY,Tsai FJ

更新日期：2017-05-01 00:00:00

abstract：:Several investigators have reported germline mutations of the APC gene in patients with familial adenomatous polyposis (FAP) as well as somatic mutations in tumors developed in digestive organs (stomach, pancreas, colon, and rectum). Those results provide evidence that inactivation of the APC gene plays a significant ...

journal_title：Human mutation

authors： Nagase H,Nakamura Y

更新日期：1993-01-01 00:00:00

abstract：:Familial hypercholesterolemia (FH) is at least twofold more prevalent in French Canadians from Québec than in most Western populations. Although our recent data confirmed this high frequency of heterozygous FH in our pediatric population with hypercholesterolemia, none of the five established molecular defects for the...

journal_title：Human mutation

authors： Assouline L,Leitersdorf E,Lambert M,Reshef A,Feoli-Fonseca JC,Levy E

更新日期：1997-01-01 00:00:00

abstract：:The Usher syndromes are autosomal recessive hereditary disorders characterized by hearing impairment and progressive visual loss due to Retinitis Pigmentosa (RP). Moderate to severe sensorineural hearing loss and progressive RP characterizes Usher syndrome type IIa (USH2A), which maps to the long arm of chromosome 1q4...

journal_title：Human mutation

authors： Adato A,Weston MD,Berry A,Kimberling WJ,Bonne-Tamir A

更新日期：2000-04-01 00:00:00

abstract：:Retinitis pigmentosa (RP) constitutes a major cause of blindness and the Retinitis Pigmentosa GTPase Regulator (RPGR) gene accounts for up to 80% of all X-linked RP cases. A novel isoform of RPGR, expressed in the human retina, was identified and characterized. It truncates the Regulator of Chromosome Condensation 1 (...

journal_title：Human mutation

authors： Neidhardt J,Glaus E,Barthelmes D,Zeitz C,Fleischhauer J,Berger W

更新日期：2007-08-01 00:00:00

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：: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：:Pathogenic genetic variants often primarily affect splicing. However, it remains difficult to quantitatively predict whether and how genetic variants affect splicing. In 2018, the fifth edition of the Critical Assessment of Genome Interpretation proposed two splicing prediction challenges based on experimental perturb...

journal_title：Human mutation

authors： Cheng J,Çelik MH,Nguyen TYD,Avsec Ž,Gagneur J

更新日期：2019-09-01 00:00:00

abstract：:The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of mutation detection...

journal_title：Human mutation

authors： Kimberling WJ

更新日期：2005-11-01 00:00:00

abstract：:The 2016 scientific meeting of the Human Genome Variation Society (HGVS; http://www.hgvs.org) was held on the 20th of May in Barcelona, Spain, with the theme of "Clinical Interpretation of Variants from Next-Generation Sequencing." ...

journal_title：Human mutation

authors： Oetting WS,Brookes AJ,Béroud C,Taschner PE

更新日期：2016-10-01 00:00:00

abstract：:Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and pr...

journal_title：Human mutation

authors： Has C,Castiglia D,del Rio M,Diez MG,Piccinni E,Kiritsi D,Kohlhase J,Itin P,Martin L,Fischer J,Zambruno G,Bruckner-Tuderman L

更新日期：2011-11-01 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：:We and others found two polymorphic LRRK2 (leucine-rich repeat kinase 2) variants (rs34778348:G>A; p.G2385R and rs33949390:G>C; p.R1628P) associated with Parkinson disease (PD) among Chinese patients, but the common worldwide rs34637584:G>A; p.G2019S mutation, was absent. Focusing exclusively on Han Chinese, we first ...

journal_title：Human mutation

authors： Tan EK,Peng R,Teo YY,Tan LC,Angeles D,Ho P,Chen ML,Lin CH,Mao XY,Chang XL,Prakash KM,Liu JJ,Au WL,Le WD,Jankovic J,Burgunder JM,Zhao Y,Wu RM

更新日期：2010-05-01 00:00:00

abstract：:Alagille syndrome (AGS) is an autosomal dominant disorder characterized by five major symptoms: cholestasis, vertebral deformity, heart malformations, ocular defects and peculiar facial appearance. The previously described Jagged1 (JAG1) gene on chromosome 20p12 has been identified as being responsible for AGS. JAG1 e...

journal_title：Human mutation

authors： Röpke A,Kujat A,Gräber M,Giannakudis J,Hansmann I

更新日期：2003-01-01 00:00:00

abstract：:Maternal folate levels and polymorphisms in folate-related genes are known risk factors for neural tube defects (NTDs). SNPs in the mitochondrial folate gene MTHFD1L are associated with the risk of NTDs. We investigated whether different alleles of SNP rs7646 in the 3' UTR of MTHFD1L can be differentially regulated by...

journal_title：Human mutation

authors： Minguzzi S,Selcuklu SD,Spillane C,Parle-McDermott A

更新日期：2014-01-01 00:00:00

abstract：:Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two related conditions of differing severity. BM is a relatively mild dominantly inherited disorder characterized by proximal weakness and distal joint contractures. UC...

journal_title：Human mutation

authors： Lampe AK,Zou Y,Sudano D,O'Brien KK,Hicks D,Laval SH,Charlton R,Jimenez-Mallebrera C,Zhang RZ,Finkel RS,Tennekoon G,Schreiber G,van der Knaap MS,Marks H,Straub V,Flanigan KM,Chu ML,Muntoni F,Bushby KM,Bönnemann CG

更新日期：2008-06-01 00:00:00

abstract：:Uridine-diphosphoglucuronate glucuronosyltransferases (UGTs) are a family of enzymes that conjugate various endogenous and exogenous compounds with glucuronic acid and facilitate their excretion in the bile. Bilirubin-UGT(1) (UGT1A1) is the only isoform that significantly contributes to the conjugation of bilirubin. L...

journal_title：Human mutation

authors： Kadakol A,Ghosh SS,Sappal BS,Sharma G,Chowdhury JR,Chowdhury NR

更新日期：2000-10-01 00:00:00

abstract：:Retinoblastoma (RB) is a neoplasm of retinal origin caused by mutations in RB1, the retinoblastoma tumor suppressor gene. To facilitate genetics counseling and patient management, we adopted a multistep molecular screening assay for detecting RB1 mutations. This assay included DNA sequencing to identify mutations with...

journal_title：Human mutation

authors： Nichols KE,Houseknecht MD,Godmilow L,Bunin G,Shields C,Meadows A,Ganguly A

更新日期：2005-06-01 00:00:00