Mutation rate of MAP2K4/MKK4 in breast carcinoma.

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：:Rett syndrome (RTT or RS) is a neurodevelopmental disorder and one of the most frequent genetic diseases in girls. Mutations of the MECP2 gene have been found in a variety of different RTT phenotypes. The MECP2 gene (Xq28) has been described in 1992. Up to now, 218 different mutations have been reported in a total gro...

journal_title：Human mutation

authors： Miltenberger-Miltenyi G,Laccone F

更新日期：2003-08-01 00:00:00

abstract：:Cytogenetically detected inversions are generally assumed to be copy number and phenotypically neutral events. While nonallelic homologous recombination is thought to play a major role, recent data suggest the involvement of other molecular mechanisms in inversion formation. Using a combination of short-read whole-gen...

journal_title：Human mutation

authors： Pettersson M,Grochowski CM,Wincent J,Eisfeldt J,Breman AM,Cheung SW,Krepischi ACV,Rosenberg C,Lupski JR,Ottosson J,Lovmar L,Gacic J,Lundberg ES,Nilsson D,Carvalho CMB,Lindstrand A

更新日期：2020-11-01 00:00:00

abstract：:Sotos syndrome is a human developmental and cognitive disorder caused by happloinsufficiency of transcription factor NSD1. Similar phenotypes arise from NSD1 gene deletion or from point mutations in 9 of 13 NSD1 domains, including all 6 PHD domains, indicating that each NSD1 domain performs an essential role. To gain ...

journal_title：Human mutation

authors： Pasillas MP,Shah M,Kamps MP

更新日期：2011-03-01 00:00:00

abstract：:We describe a scanning procedure for the detection of beta-globin gene mutations and the prenatal diagnosis of beta-thalassemias. The method is based on the combined use of PCR and denaturing gradient gel electrophoresis (DGGE) of six amplified fragments encompassing the whole beta-globin coding region and splice junc...

journal_title：Human mutation

authors： Ghanem N,Girodon E,Vidaud M,Martin J,Fanen P,Plassa F,Goossens M

更新日期：1992-01-01 00:00:00

abstract：:GRB-associated binding protein 2 (GAB2) was recently reported to be a modifier of late-onset Alzheimer dementia (AD) risk in carriers of the APOE epsilon4 allele in a genome-wide association analysis. We aimed to investigate this association in a well-characterized Belgian late-onset AD patient/control group: 528 Belg...

journal_title：Human mutation

authors： Sleegers K,Bettens K,Brouwers N,Engelborghs S,van Miegroet H,De Deyn PP,Van Broeckhoven C

更新日期：2009-02-01 00:00:00

abstract：:The aim of the study is to validate the etiological role of KIAA0027/MLC1 in childhood-onset megalencephalic leukoencephalopathy with subcortical cysts (MLC) and in schizophrenia, particularly the catatonic subtype, which were reported to be allelic diseases. Among a series of five patients with MLC, four mutant allel...

journal_title：Human mutation

authors： Rubie C,Lichtner P,Gärtner J,Siekiera M,Uziel G,Kohlmann B,Kohlschütter A,Meitinger T,Stöber G,Bettecken T

更新日期：2003-01-01 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：:Pyrosequencing, a non-electrophoretic method for DNA sequencing, is emerging as a popular platform for analysis of single nucleotide polymorphisms (SNPs). This technology has the advantage of accuracy, ease-of-use, and high flexibility for different applications. Here, we review the methodology and the use of this tec...

journal_title：Human mutation

authors： Fakhrai-Rad H,Pourmand N,Ronaghi M

更新日期：2002-05-01 00:00:00

abstract：:Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disor...

journal_title：Human mutation

authors： Frank V,den Hollander AI,Brüchle NO,Zonneveld MN,Nürnberg G,Becker C,Du Bois G,Kendziorra H,Roosing S,Senderek J,Nürnberg P,Cremers FP,Zerres K,Bergmann C

更新日期：2008-01-01 00:00:00

abstract：:Oculodentodigital dysplasia (ODDD) and Hallermann-Streiff syndrome (HSS) share several clinical characteristics. However, while ODDD is a dominantly inherited disorder due to mutations in the connexin 43 gene GJA1, the inheritance pattern of the HSS syndrome is still debated. Overlapping phenotypes have been described...

journal_title：Human mutation

authors： Pizzuti A,Flex E,Mingarelli R,Salpietro C,Zelante L,Dallapiccola B

更新日期：2004-03-01 00:00:00

abstract：:Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene (SLC6A8). So far, 20 mutations in the SLC6A8 gene have been described. We have developed a diagnostic assay to test creatine uptake in fibroblasts. Additionally, we expanded the assay to char...

journal_title：Human mutation

authors： Rosenberg EH,Martínez Muñoz C,Betsalel OT,van Dooren SJ,Fernandez M,Jakobs C,deGrauw TJ,Kleefstra T,Schwartz CE,Salomons GS

更新日期：2007-09-01 00:00:00

abstract：:The maturity-onset diabetes of the young (MODY), an autosomal dominant form of non-insulin dependent diabetes mellitus (NIDDM), is caused by mutations in the glucokinase (GK, MODY 2) and in the hepatocyte nuclear factor 1a (MODY 3) and 4a (MODY 1) genes. We have screened the glucokinase gene by the polymerase chain re...

journal_title：Human mutation

authors： Guazzini B,Gaffi D,Mainieri D,Multari G,Cordera R,Bertolini S,Pozza G,Meschi F,Barbetti F

更新日期：1998-01-01 00:00:00

abstract：:TP63 germ-line mutations are responsible for a group of human ectodermal dysplasia syndromes, underlining the key role of P63 in the development of ectoderm-derived tissues. Here, we report the identification of two TP63 alleles, G134V (p.Gly173Val) and insR155 (p.Thr193_Tyr194insArg), associated to ADULT and EEC synd...

journal_title：Human mutation

authors： Monti P,Russo D,Bocciardi R,Foggetti G,Menichini P,Divizia MT,Lerone M,Graziano C,Wischmeijer A,Viadiu H,Ravazzolo R,Inga A,Fronza G

更新日期：2013-06-01 00:00:00

abstract：:Mutations in zinc-finger in cerebellum 3 (ZIC3) result in heterotaxy or isolated congenital heart disease (CHD). The majority of reported mutations cluster in zinc-finger domains. We previously demonstrated that many of these lead to aberrant ZIC3 subcellular trafficking. A relative paucity of N- and C-terminal mutati...

journal_title：Human mutation

authors： Cowan J,Tariq M,Ware SM

更新日期：2014-01-01 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：:We sought to examine the role of genetics in the multifactorial disease, abdominal aortic aneurysm (AAA), by studying sequence variation in the BAK1 gene (BAK1) that codes for an apoptotic-promoting protein, as chronic apoptosis activation has been linked to AAA development and progression. BAK1 abdominal aorta cDNA f...

journal_title：Human mutation

authors： Gottlieb B,Chalifour LE,Mitmaker B,Sheiner N,Obrand D,Abraham C,Meilleur M,Sugahara T,Bkaily G,Schweitzer M

更新日期：2009-07-01 00:00:00

abstract：:Cystic fibrosis, the most common lethal genetic disease in the white population, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Analysis of DNA from a pancreatic insufficient patient by chemical mismatch cleavage and subsequent DNA sequencing led to the identification of...

journal_title：Human mutation

authors： Strong TV,Smit LS,Nasr S,Wood DL,Cole JL,Iannuzzi MC,Stern RC,Collins FS

更新日期：1992-01-01 00:00:00

abstract：:Hereditary multiple exostoses is a dominantly inherited disease characterized by multiple benign osteochondromas. The affected individuals have an increased risk of developing sarcoma. A large Finnish family with hereditary multiple exostosis was analyzed to find the disease-causing mutation. Blood samples were obtain...

journal_title：Human mutation

authors： Wolf M,Hemminki A,Kivioja A,Sistonen P,Kaitila I,Ervasti H,Kinnunen J,Karaharju E,Knuutila S

更新日期：1998-01-01 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：:We describe a simple method for expanding CAG trinucleotides in CAG-repeat containing genes which, in contrast to other techniques, leaves the original gene sequence intact. Here, we expanded the CAG stretches of a plasmid clone containing the cDNA of the SCA3/MJD gene from 22 CAG up to > 130 CAG repeats using polymer...

journal_title：Human mutation

authors： Laccone F,Maiwald R,Bingemann S

更新日期：1999-01-01 00:00:00

abstract：:The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of cystathionine and cysteine. Ninety-two different disease-associated mu...

journal_title：Human mutation

authors： Kraus JP,Janosík M,Kozich V,Mandell R,Shih V,Sperandeo MP,Sebastio G,de Franchis R,Andria G,Kluijtmans LA,Blom H,Boers GH,Gordon RB,Kamoun P,Tsai MY,Kruger WD,Koch HG,Ohura T,Gaustadnes M

更新日期：1999-01-01 00:00:00

abstract：:Males with an expressed mutation in the SH2D1A gene that encodes an SH2 domain protein named SH2D1A or SAP (NP_002342; signaling lymphocyte activating molecule [SLAM]-associated protein), have an X-linked syndrome characterized by an increased vulnerability to infection with Epstein-Barr virus (EBV). We evaluated two ...

journal_title：Human mutation

authors： Erdõs M,Uzvölgyi E,Nemes Z,Török O,Rákóczi E,Went-Sümegi N,Sümegi J,Maródi L

更新日期：2005-05-01 00:00:00

abstract：:We report the largest international study on Glanzmann thrombasthenia (GT), an inherited bleeding disorder where defects of the ITGA2B and ITGB3 genes cause quantitative or qualitative defects of the αIIbβ3 integrin, a key mediator of platelet aggregation. Sequencing of the coding regions and splice sites of both gene...

journal_title：Human mutation

authors： Nurden AT,Pillois X,Fiore M,Alessi MC,Bonduel M,Dreyfus M,Goudemand J,Gruel Y,Benabdallah-Guerida S,Latger-Cannard V,Négrier C,Nugent D,Oiron RD,Rand ML,Sié P,Trossaert M,Alberio L,Martins N,Sirvain-Trukniewicz P,Co

更新日期：2015-05-01 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：:We report the isolation and characterization of a polymorphic pentanucleotide repeat (TAAAA)n, which was mapped to human chromosomes X and Y (loci DXYS156X and DXYS156Y) by PCR amplification of DNA from a monochromosomal somatic cell hybrid panel (NIGMS panel 2). The (TAAAA)n repeat of loci DXYS156 occurs within a hum...

journal_title：Human mutation

authors： Chen H,Lowther W,Avramopoulos D,Antonarakis SE

更新日期：1994-01-01 00:00:00

abstract：:Cystic fibrosis (CF), the most common life-threatening genetic disease in Caucasians, is caused by ∼2,000 different mutations in the CF transmembrane conductance regulator (CFTR) gene. A significant fraction of these (∼13%) affect pre-mRNA splicing for which novel therapies have been somewhat neglected. We have previo...

journal_title：Human mutation

authors： Igreja S,Clarke LA,Botelho HM,Marques L,Amaral MD

更新日期：2016-02-01 00:00:00

abstract：:Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a diagnosis in many cases. We employed exome sequencing to identify the underlying molecular defects in patients with unresolved but puta...

journal_title：Human mutation

authors： Makrythanasis P,Nelis M,Santoni FA,Guipponi M,Vannier A,Béna F,Gimelli S,Stathaki E,Temtamy S,Mégarbané A,Masri A,Aglan MS,Zaki MS,Bottani A,Fokstuen S,Gwanmesia L,Aliferis K,Bustamante Eduardo M,Stamoulis G,Psoni S

更新日期：2014-10-01 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：: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