Cytogenetically visible inversions are formed by multiple molecular mechanisms.

abstract：:Protein C (PC) is a key regulator of blood clotting and inflammation. Its inherited deficiency is associated with venous thromboembolism, and recombinant activated PC is currently used to increase survival in severe sepsis. The molecular basis of inherited PC deficiency is heterogeneous. Due to its multiple physiologi...

journal_title：Human mutation

authors： Rovida E,Merati G,D'Ursi P,Zanardelli S,Marino F,Fontana G,Castaman G,Faioni EM

更新日期：2007-04-01 00:00:00

abstract：:DNA double-strand break repair via non-homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T-cell receptor genes. Mutations in NHEJ components result in syndromes that are characterized by microcephaly and immunodeficiency. We present a patient with lymphopenia, extreme radiosensitivity, s...

journal_title：Human mutation

authors： IJspeert H,Warris A,van der Flier M,Reisli I,Keles S,Chishimba S,van Dongen JJ,van Gent DC,van der Burg M

更新日期：2013-12-01 00:00:00

abstract：:Linkage studies have provided evidence that one or more loci on chromosome 9q influence Alzheimer disease (AD). The gene encoding the ATP-binding cassette A1 transporter (ABCA1) resides within proximity of previously identified linkage peaks and represents a plausible biological candidate for AD due to its central rol...

journal_title：Human mutation

authors： Katzov H,Chalmers K,Palmgren J,Andreasen N,Johansson B,Cairns NJ,Gatz M,Wilcock GK,Love S,Pedersen NL,Brookes AJ,Blennow K,Kehoe PG,Prince JA

更新日期：2004-04-01 00:00:00

abstract：:The aim of this locus-specific mutation database was to provide an online resource that contains summarised and updated information on familial hypertrophic cardiomyopathy (FHC)-associated mutations and related data, for researchers and clinicians. It also serves as a means of publishing previously unpublished data, w...

journal_title：Human mutation

authors： Fung DC,Yu B,Littlejohn T,Trent RJ

更新日期：1999-01-01 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：:Mutations in the low density lipoprotein (LDL)-receptor gene cause familial hypercholesterolemia (FH), an autosomal dominant disease associated to an increased risk of premature atherosclerosis. We describe two novel mutations found in Italian families and consisting in minor gene rearrangements. The first one (FH-Pis...

journal_title：Human mutation

authors： Motti C,Bertolini S,Rampa P,Trovatello G,Liberatoscioli L,Calandra S,Federici G,Cortese C

更新日期：1998-01-01 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：:Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identified on both alleles...

journal_title：Human mutation

authors： Giuliano F,Bannwarth S,Monnot S,Cano A,Chabrol B,Vialettes B,Delobel B,Paquis-Flucklinger V,French Group of WS.

更新日期：2005-01-01 00:00:00

abstract：:The Marfan (MFS) and Loeys-Dietz (LDS) syndromes are caused by mutations in the fibrillin-1 (FBN1) and Transforming Growth Factor Beta Receptor 1 and 2 (TGFBR1 and TGFBR2) genes, respectively. With the current conventional mutation screening technologies, analysis of this set of genes is time consuming and expensive. ...

journal_title：Human mutation

authors： Baetens M,Van Laer L,De Leeneer K,Hellemans J,De Schrijver J,Van De Voorde H,Renard M,Dietz H,Lacro RV,Menten B,Van Criekinge W,De Backer J,De Paepe A,Loeys B,Coucke PJ

更新日期：2011-09-01 00:00:00

abstract：:Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of sev...

journal_title：Human mutation

authors： Hijazi H,Coelho FS,Gonzaga-Jauregui C,Bernardini L,Mar SS,Manning MA,Hanson-Kahn A,Naidu S,Srivastava S,Lee JA,Jones JR,Friez MJ,Alberico T,Torres B,Fang P,Cheung SW,Song X,Davis-Williams A,Jornlin C,Wight PA,Paty

更新日期：2020-01-01 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：:Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole-exome sequencing to iden...

journal_title：Human mutation

authors： Ng BG,Raymond K,Kircher M,Buckingham KJ,Wood T,Shendure J,Nickerson DA,Bamshad MJ,University of Washington Center for Mendelian Genomics.,Wong JT,Monteiro FP,Graham BH,Jackson S,Sparkes R,Scheuerle AE,Cathey S,Kok F,Gib

更新日期：2015-11-01 00:00:00

abstract：:Genetic testing for mutations in high-risk cancer susceptibility genes often reveals missense substitutions that are not easily classified as pathogenic or neutral. Among the methods that can help in their classification are computational analyses. Predictions of pathogenic vs. neutral, or the probability that a varia...

journal_title：Human mutation

authors： Tavtigian SV,Greenblatt MS,Lesueur F,Byrnes GB,IARC Unclassified Genetic Variants Working Group.

更新日期：2008-11-01 00:00:00

abstract：:Denaturing HPLC (DHPLC) is a useful technique for the fast screening of known and unknown heterozygous gene mutations. Most DNA mutations causing genetic disorders consist of nucleotide substitutions, but insertions and deletions occur, albeit less frequently. The heteroduplexes with insertions/deletions have gaps tha...

journal_title：Human mutation

authors： Cremonesi L,Stenirri S,Fermo I,Paroni R,Ferrari M,Cazzola M,Arosio P

更新日期：2003-07-01 00:00:00

abstract：:Alzheimer disease (AD) is a complex neurodegenerative disorder predisposed by multiple genetic factors. Mutations in amyloid beta precursor protein (APP) are known to be associated with autosomal dominant, early onset familial AD and possibly also late onset AD (LOAD). A number of genes encoding proteins capable of bi...

journal_title：Human mutation

authors： Li Y,Hollingworth P,Moore P,Foy C,Archer N,Powell J,Nowotny P,Holmans P,O'Donovan M,Tacey K,Doil L,van Luchene R,Garcia V,Rowland C,Lau K,Cantanese J,Sninsky J,Hardy J,Thal L,Morris JC,Goate A,Lovestone S,Owen

更新日期：2005-03-01 00:00:00

abstract：:Multiple osteochondromas (MO) is an autosomal dominant skeletal disease characterized by the formation of multiple cartilage-capped bone tumors growing outward from the metaphyses of long tubular bones. MO is genetically heterogeneous, and is associated with mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2), both ...

journal_title：Human mutation

authors： Jennes I,Pedrini E,Zuntini M,Mordenti M,Balkassmi S,Asteggiano CG,Casey B,Bakker B,Sangiorgi L,Wuyts W

更新日期：2009-12-01 00:00:00

abstract：:Since the first report by our group in 1999, more than 20 unrelated biallelic mutations in DNA mismatch repair genes (MMR) have been identified. In the present report, we describe two novel cases: one carrying compound heterozygous mutations in the MSH6 gene; and the other, compound heterozygous mutations in the PMS2 ...

journal_title：Human mutation

authors： Auclair J,Leroux D,Desseigne F,Lasset C,Saurin JC,Joly MO,Pinson S,Xu XL,Montmain G,Ruano E,Navarro C,Puisieux A,Wang Q

更新日期：2007-11-01 00:00:00

abstract：:The dramatic advances in genetic sequencing technologies used in research laboratories are now entering the clinic, and applications of whole-genome and whole-exome sequencing to disease diagnosis, predisposition, and treatment will soon be commonplace. However, the standards and methods for identifying clinically rel...

journal_title：Human mutation

authors： Stanley CM,Sunyaev SR,Greenblatt MS,Oetting WS

更新日期：2014-04-01 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：: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：:Glucocerebrosidase is a lysosomal enzyme responsible for hydrolysis of glucosylceramide to ceramide and glucose. Mutations disrupting the function of this enzyme cause autosomal recessive Gaucher disease. This disease is very heterogeneous. The clinical heterogeneity is due to a large number of mutations within the ge...

journal_title：Human mutation

authors： Horowitz M,Zimran A

更新日期：1994-01-01 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：: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：:The original article to which this Erratum refers was published in Human Mutation 36(6):593–598(DOI:10.1002/humu22795).The authors realized that a co-author, Nuria C. Bramswig, was left off of the title page of this article at the time of submission. This erratum serves to correct this error by including Dr. Bramswig ...

journal_title：Human mutation

authors： Sukalo M,Tilsen F,Kayserili H,Müller D,Tüysüz B,Ruddy DM,Wakeling E,Ørstavik KH,Bramswig NC,Snape KM,Trembath R,De Smedt M,van der Aa N,Skalej M,Mundlos S,Wuyts W,Southgate L,Zenker M

更新日期：2015-11-01 00:00:00

abstract：:Mutations in the SLC22A5 gene, which encodes for the plasma membrane carnitine transporter OCTN2, cause primary carnitine deficiency (PCD). After our first report of OCTN2 mutations in Chinese, three more Chinese PCD patients were identified. The parents of these families were non-consanguineous and these families wer...

journal_title：Human mutation

authors： Tang NL,Hwu WL,Chan RT,Law LK,Fung LM,Zhang WM

更新日期：2002-09-01 00:00:00

abstract：:Int22h1/Int22h2-mediated Xq28 duplication syndrome is a relatively new X-linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary manifestations include variable cognitive deficits, distinct facial dysm...

journal_title：Human mutation

authors： Ballout RA,Dickerson C,Wick MJ,Al-Sweel N,Openshaw AS,Srivastava S,Swanson LC,Bramswig NC,Kuechler A,Hong B,Fleming LR,Curry K,Robertson SP,Andersen EF,El-Hattab AW

更新日期：2020-07-01 00:00:00

abstract：:Single amino acid substitution is the type of protein alteration most related to human diseases. Current studies seek primarily to distinguish neutral mutations from harmful ones. Very few methods offer an explanation of the final prediction result in terms of the probable structural or functional effect on the protei...

journal_title：Human mutation

authors： Yip YL,Zoete V,Scheib H,Michielin O

更新日期：2006-09-01 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：:During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in development and/or function of the immune system. Among them is the JAK3-gene, encoding for a tyrosine kinase that is functionally coupled to cytokine receptors which...

journal_title：Human mutation

authors： Notarangelo LD,Mella P,Jones A,de Saint Basile G,Savoldi G,Cranston T,Vihinen M,Schumacher RF

更新日期：2001-10-01 00:00:00

abstract：:We report the spectrum of phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) residing in Lithuania. A total of 184 independent chromosomes was investigated. R408W mutation was first analysed through restriction enzyme digestion of exon 12. The remaining uncharacterised PKU chromosome...

journal_title：Human mutation

authors： Kasnauskiene J,Giannattasio S,Lattanzio P,Cimbalistiene L,Kucinskas V

更新日期：2003-04-01 00:00:00