Dynamic mutations: a decade of unstable expanded repeats in human genetic disease.

abstract：:Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (αDG), including POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP, ISPD and GTDC2. Mutations in these glycosyltransferase genes result in defective αDG glycosylation and reduced ligand binding by α...

journal_title：Human molecular genetics

authors： Buysse K,Riemersma M,Powell G,van Reeuwijk J,Chitayat D,Roscioli T,Kamsteeg EJ,van den Elzen C,van Beusekom E,Blaser S,Babul-Hirji R,Halliday W,Wright GJ,Stemple DL,Lin YY,Lefeber DJ,van Bokhoven H

更新日期：2013-05-01 00:00:00

abstract：:Clinical trials are underway for the treatment of tuberous sclerosis (TSC)-associated tumours using mTOR inhibitors. Here, we show that many of the earliest renal lesions from Tsc1+/- and Tsc2+/- mice do not exhibit mTOR activation, suggesting that pharmacological targeting of an alternative pathway may be necessary t...

journal_title：Human molecular genetics

authors： Bonnet CS,Aldred M,von Ruhland C,Harris R,Sandford R,Cheadle JP

更新日期：2009-06-15 00:00:00

abstract：:Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the prese...

journal_title：Human molecular genetics

authors： Casademont J,Barrientos A,Cardellach F,Rötig A,Grau JM,Montoya J,Beltrán B,Cervantes F,Rozman C,Estivill X

更新日期：1994-11-01 00:00:00

abstract：:Junctional epidermolysis bullosa inversa is an autosomal recessive blistering skin disease with an ultrastructural hemidesmosome defect similar to that of the Herlitz disease, yet with a non-lethal and different course of the disease. Its delineation is based on five geographically associated Norwegian families where ...

journal_title：Human molecular genetics

authors： Gedde-Dahl T Jr,Dupuy BM,Jonassen R,Winberg JO,Anton-Lamprecht I,Olaisen B

更新日期：1994-08-01 00:00:00

abstract：:Cone photoreceptors (cones) are essential for high-resolution daylight vision and colour perception. Loss of cones in hereditary retinal diseases has a dramatic impact on human vision. The mechanisms underlying cone death are poorly understood, and consequently, there are no treatments available. Previous studies sugg...

journal_title：Human molecular genetics

authors： Kulkarni M,Trifunović D,Schubert T,Euler T,Paquet-Durand F

更新日期：2016-09-01 00:00:00

abstract：:Somatic and germline mutations in PTEN (phosphatase and tensin homolog deleted on chromosome 10) are found in sporadic cancers and Cowden syndrome patients, respectively. Recent identification of naturally occurring cancer and germline mutations within the ATP-binding motifs of PTEN (heretofore referred to as PTEN ATP...

journal_title：Human molecular genetics

authors： He X,Ni Y,Wang Y,Romigh T,Eng C

更新日期：2011-01-01 00:00:00

abstract：:Manipulation of the mouse genome by site-specific mutagenesis has been extensively used to study gene function and model human disorders. Mouse models of myotubular myopathy (XLMTM), a severe congenital muscular disorder due to loss-of-function mutations in the MTM1 gene, have been generated by homologous recombinatio...

journal_title：Human molecular genetics

authors： Joubert R,Vignaud A,Le M,Moal C,Messaddeq N,Buj-Bello A

更新日期：2013-05-01 00:00:00

abstract：:Actinic keratosis (AK) is a pre-malignant skin disease, highly prevalent in elderly Europeans. This study investigates genetic susceptibility to AK with a genome-wide association study (GWAS). A full body skin examination was performed in 3194 elderly individuals from the Rotterdam Study (RS) of exclusive north-wester...

journal_title：Human molecular genetics

authors： Jacobs LC,Liu F,Pardo LM,Hofman A,Uitterlinden AG,Kayser M,Nijsten T

更新日期：2015-06-01 00:00:00

abstract：:Advances in information technology (IT) hardware in the last decade have led to the advent of small connected devices broadly referred to as the Internet of Things (IoT). The IoT and its subcategory of wearable devices (wearables) both have the potential to greatly impact biomedical research. This focused review cover...

journal_title：Human molecular genetics

authors： Talboom JS,Huentelman MJ

更新日期：2018-05-01 00:00:00

abstract：:Epilepsy, deafness, onychodystrophy, osteodystrophy and intellectual disability are associated with a spectrum of mutations of human TBC1D24. The mechanisms underlying TBC1D24-associated disorders and the functions of TBC1D24 are not well understood. Using CRISPR-Cas9 genome editing, we engineered a mouse with a prema...

journal_title：Human molecular genetics

authors： Tona R,Chen W,Nakano Y,Reyes LD,Petralia RS,Wang YX,Starost MF,Wafa TT,Morell RJ,Cravedi KD,du Hoffmann J,Miyoshi T,Munasinghe JP,Fitzgerald TS,Chudasama Y,Omori K,Pierpaoli C,Banfi B,Dong L,Belyantseva IA,Friedma

更新日期：2019-05-01 00:00:00

abstract：:Rett syndrome (RTT), an X-linked postnatal disorder, results from mutations in Methyl CpG-binding protein 2 (MECP2). Survival and breathing in Mecp2(NULL/Y) animals are improved by an N-terminal tripeptide of insulin-like growth factor I (IGF-I) treatment. We determined that Mecp2(NULL/Y) animals also have a metabolic...

journal_title：Human molecular genetics

authors： Pitcher MR,Ward CS,Arvide EM,Chapleau CA,Pozzo-Miller L,Hoeflich A,Sivaramakrishnan M,Saenger S,Metzger F,Neul JL

更新日期：2013-07-01 00:00:00

abstract：:The transcription factor SOX10 is mutated in the human neurocristopathy Waardenburg-Shah syndrome (WS4), which is characterized by enteric aganglionosis and pigmentation defects. SOX10 directly regulates genes expressed in neural crest lineages, including the enteric ganglia and melanocytes. Although some SOX10 target...

journal_title：Human molecular genetics

authors： Antonellis A,Bennett WR,Menheniott TR,Prasad AB,Lee-Lin SQ,NISC Comparative Sequencing Program.,Green ED,Paisley D,Kelsh RN,Pavan WJ,Ward A

更新日期：2006-01-15 00:00:00

abstract：:Genome-wide association studies have identified susceptibility loci for esophageal squamous cell carcinoma (ESCC). We conducted a meta-analysis of all single-nucleotide polymorphisms (SNPs) that showed nominally significant P-values in two previously published genome-wide scans that included a total of 2961 ESCC cases...

journal_title：Human molecular genetics

authors： Abnet CC,Wang Z,Song X,Hu N,Zhou FY,Freedman ND,Li XM,Yu K,Shu XO,Yuan JM,Zheng W,Dawsey SM,Liao LM,Lee MP,Ding T,Qiao YL,Gao YT,Koh WP,Xiang YB,Tang ZZ,Fan JH,Chung CC,Wang C,Wheeler W,Yeager M,Yuenger

更新日期：2012-05-01 00:00:00

abstract：:Although considered the most common heritable cause of neurodevelopmental disability, precise prevalence figures for the FMR1 mutation in the general population are lacking. Since no fragile X premutation alleles have yet been observed to originate from FMR1 alleles within the normal size range, there is also little i...

journal_title：Human molecular genetics

authors： Reiss AL,Kazazian HH Jr,Krebs CM,McAughan A,Boehm CD,Abrams MT,Nelson DL

更新日期：1994-03-01 00:00:00

abstract：:Retinoblastoma is a non-hereditary as well as an inherited pediatric tumor of the developing retina resulting from the inactivation of both copies of the RB1 tumor suppressor gene. Familial retinoblastoma is a highly penetrant genetic disease that usually develops by carrying germline mutations that inactivate one all...

journal_title：Human molecular genetics

authors： Dehainault C,Garancher A,Castéra L,Cassoux N,Aerts I,Doz F,Desjardins L,Lumbroso L,Montes de Oca R,Almouzni G,Stoppa-Lyonnet D,Pouponnot C,Gauthier-Villars M,Houdayer C

更新日期：2014-10-01 00:00:00

abstract：:To assess the relationship between the genotype and phenotype of adult CF patients we have selected from a group of 512 CF patients attending centres in France, all these of greater than 35 years. We have analysed the entire coding sequence of their CFTR genes. The complete genotype was determined in 7 of the 8 patien...

journal_title：Human molecular genetics

authors： Férec C,Verlingue C,Guillermit H,Quéré I,Raguénès O,Feigelson J,Audrézet MP,Moullier P,Mercier B

更新日期：1993-10-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders. The gene responsible for the disease has a very high mutation rate, approximately fifty per cent of NF1 patients appear to have a de novo mutation. The search for mutations is hampered by the large size of the NF1 gene and up to date, relati...

journal_title：Human molecular genetics

authors： Valero MC,Velasco E,Moreno F,Hernández-Chico C

更新日期：1994-04-01 00:00:00

abstract：:The role of renin binding protein (RnBP) in human (patho)physiology, despite its biochemical characterization, is as yet unclear. RnBP has been shown to bind and inactivate renin, a key player of the blood pressure regulating renin-angiotensin system. This renders the RnBP gene a promising candidate gene in human hype...

journal_title：Human molecular genetics

authors： Knöll A,Schunkert H,Reichwald K,Danser AH,Bauer D,Platzer M,Stein G,Rosenthal A

更新日期：1997-09-01 00:00:00

abstract：:Megf7/Lrp4 is a member of the functionally diverse low-density lipoprotein receptor gene family, a class of ancient and highly conserved cell surface receptors with broad functions in cargo transport and cellular signaling. To gain insight into the as yet unknown biological role of Megf7/Lrp4, we have disrupted the ge...

journal_title：Human molecular genetics

authors： Johnson EB,Hammer RE,Herz J

更新日期：2005-11-15 00:00:00

abstract：:Fourteen neurological diseases have been associated with the expansion of trinucleotide repeat regions. These diseases have been categorized into those that give rise to the translation of toxic polyglutamine proteins and those that are untranslated. Thus far, compelling evidence has not surfaced for the inclusion of ...

journal_title：Human molecular genetics

authors： Peel AL,Rao RV,Cottrell BA,Hayden MR,Ellerby LM,Bredesen DE

更新日期：2001-07-15 00:00:00

abstract：:Autism is a heterogeneous condition that is likely to result from the combined effects of multiple genetic factors interacting with environmental factors. Given its complexity, the study of autism associated with Mendelian single gene disorders or known chromosomal etiologies provides an important perspective. We used...

journal_title：Human molecular genetics

authors： Nishimura Y,Martin CL,Vazquez-Lopez A,Spence SJ,Alvarez-Retuerto AI,Sigman M,Steindler C,Pellegrini S,Schanen NC,Warren ST,Geschwind DH

更新日期：2007-07-15 00:00:00

abstract：:Xeroderma pigmentosum (XP) complementation group F was first reported in Japan and most XP-F patients reported to date are Japanese. The clinical features of XP-F patients are rather mild, including late onset of skin cancer. Recently a cDNA that corrects the repair deficiency of cultured XP-F cells was isolated. The ...

journal_title：Human molecular genetics

authors： Matsumura Y,Nishigori C,Yagi T,Imamura S,Takebe H

更新日期：1998-06-01 00:00:00

abstract：:PAX genes encode nuclear transcription factors which are rapidly becoming regarded as major controllers of developmental processes in both vertebrates and invertebrates. Mutations in murine Pax genes underlie three natural mouse alleles and two corresponding human syndromes. Murine Pax genes have been shown to be prot...

journal_title：Human molecular genetics

authors： Stuart ET,Gruss P

更新日期：1995-01-01 00:00:00

abstract：:Williams syndrome (WS) is a neurodevelopmental disorder caused by a 1.5-1.8 Mbp deletion on chromosome 7q11.23, affecting the copy number of 26-28 genes. Phenotypes of WS include cardiovascular problems, craniofacial dysmorphology, deficits in visual-spatial cognition and a characteristic hypersocial personality. Ther...

journal_title：Human molecular genetics

authors： Kopp N,McCullough K,Maloney SE,Dougherty JD

更新日期：2019-10-15 00:00:00

abstract：:Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting in a loss of a ubiquitously expressed protein, gigaxonin. Gene replacement therapy is a promising strategy for treatment of the disease; however, the effectiveness and safety of gi...

journal_title：Human molecular genetics

authors： Johnson-Kerner BL,Ahmad FS,Diaz AG,Greene JP,Gray SJ,Samulski RJ,Chung WK,Van Coster R,Maertens P,Noggle SA,Henderson CE,Wichterle H

更新日期：2015-03-01 00:00:00

abstract：:Mutations in PTEN-induced putative kinase 1 (PINK1) or parkin cause autosomal recessive forms of Parkinson disease (PD), but how these mutations trigger neurodegeneration is poorly understood and the exact functional relationship between PINK1 and parkin remains unclear. Here, we report that PINK1 regulates the E3 ubi...

journal_title：Human molecular genetics

authors： Sha D,Chin LS,Li L

更新日期：2010-01-15 00:00:00

abstract：:Turner syndrome is a complex human disorder that generally associates a 45,X karyotype to a female phenotype presenting with gonadal dysgenesis, short stature and a number of characteristic somatic features. It has been hypothesized that this specific phenotype was the consequence of the haploinsufficiency of some X-l...

journal_title：Human molecular genetics

authors： Barbaux S,Vilain E,Raoul O,Gilgenkrantz S,Jeandidier E,Chadenas D,Souleyreau N,Fellous M,McElreavey K

更新日期：1995-09-01 00:00:00

abstract：:Age-related macular degeneration (AMD) is a progressive disease of the central retina and the leading cause of irreversible vision loss in the western world. The involvement of abnormal complement activation in AMD has been suggested by association of variants in genes encoding complement proteins with disease develop...

journal_title：Human molecular genetics

authors： Kremlitzka M,Geerlings MJ,de Jong S,Bakker B,Nilsson SC,Fauser S,Hoyng CB,de Jong EK,den Hollander AI,Blom AM

更新日期：2018-08-01 00:00:00

abstract：:Aiming to identify novel genetic variants and to confirm previously identified genetic variants associated with bone mineral density (BMD), we conducted a three-stage genome-wide association (GWA) meta-analysis in 27 061 study subjects. Stage 1 meta-analyzed seven GWA samples and 11 140 subjects for BMDs at the lumbar...

journal_title：Human molecular genetics

authors： Zhang L,Choi HJ,Estrada K,Leo PJ,Li J,Pei YF,Zhang Y,Lin Y,Shen H,Liu YZ,Liu Y,Zhao Y,Zhang JG,Tian Q,Wang YP,Han Y,Ran S,Hai R,Zhu XZ,Wu S,Yan H,Liu X,Yang TL,Guo Y,Zhang F,Guo YF,Chen Y,Chen X,Ta

更新日期：2014-04-01 00:00:00

abstract：:Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids, pancreas and anterior pituitary that represents one of the familial cancer syndromes. The MEN1 locus has been previously localised to chromosome 11q13, and a <300 kb gene-rich region flanked centr...

journal_title：Human molecular genetics

authors： Lemmens I,Van de Ven WJ,Kas K,Zhang CX,Giraud S,Wautot V,Buisson N,De Witte K,Salandre J,Lenoir G,Pugeat M,Calender A,Parente F,Quincey D,Gaudray P,De Wit MJ,Lips CJ,Höppener JW,Khodaei S,Grant AL,Weber G,Kytölä

更新日期：1997-07-01 00:00:00