Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.

abstract：:The recently described DNA replication-based mechanisms of fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) were previously shown to catalyze complex exonic, genic and genomic rearrangements. By analyzing a large number of isochromosomes of the long arm of chro...

journal_title：Human molecular genetics

authors： Koumbaris G,Hatzisevastou-Loukidou H,Alexandrou A,Ioannides M,Christodoulou C,Fitzgerald T,Rajan D,Clayton S,Kitsiou-Tzeli S,Vermeesch JR,Skordis N,Antoniou P,Kurg A,Georgiou I,Carter NP,Patsalis PC

更新日期：2011-05-15 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：:We report the case of a consanguineous couple who lost four pregnancies associated with skeletal dysplasia. Radiological examination of one fetus was inconclusive. Parental exome sequencing showed that both parents were heterozygous for a novel missense variant, p.(Pro133Leu), in the SLC35D1 gene encoding a nucleotide...

journal_title：Human molecular genetics

authors： Rautengarten C,Quarrell OW,Stals K,Caswell RC,De Franco E,Baple E,Burgess N,Jokhi R,Heazlewood JL,Offiah AC,Ebert B,Ellard S

更新日期：2019-11-01 00:00:00

abstract：:Neurodevelopmental disorders frequently share common clinical features and appear high rate of comorbidity, such as those present in patients with attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASD). While characterizing behavioral phenotypes in the mouse model of cyclin-dependent kinas...

journal_title：Human molecular genetics

authors： Jhang CL,Huang TN,Hsueh YP,Liao W

更新日期：2017-10-15 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：:Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterized by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of a gene encoding a serine...

journal_title：Human molecular genetics

authors： Whiting EJ,Waring JD,Tamai K,Somerville MJ,Hincke M,Staines WA,Ikeda JE,Korneluk RG

更新日期：1995-06-01 00:00:00

abstract：:Neurofibromas are common tumors found in neurofibromatosis type 1 (NF1) patients. These complex tumors are composed of Schwann cells, mast cells, fibroblasts and perineurial cells embedded in collagen that provide a lattice for tumor invasion. Genetic studies demonstrate that in neurofibromas, nullizygous loss of Nf1 ...

journal_title：Human molecular genetics

authors： Yang FC,Chen S,Clegg T,Li X,Morgan T,Estwick SA,Yuan J,Khalaf W,Burgin S,Travers J,Parada LF,Ingram DA,Clapp DW

更新日期：2006-08-15 00:00:00

abstract：:The intraflagellar transport (IFT) machinery containing the IFT-A and IFT-B complexes mediates ciliary protein trafficking. Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysp...

journal_title：Human molecular genetics

authors： Takahara M,Katoh Y,Nakamura K,Hirano T,Sugawa M,Tsurumi Y,Nakayama K

更新日期：2018-02-01 00:00:00

abstract：:A genetic contribution to the pathogenesis of panic disorder has been demonstrated by clinical genetic studies. Molecular genetic studies have focused on candidate genes suggested by the molecular mechanisms implied in the action of drugs utilized for therapy or in challenge tests. One class of drugs effective in the ...

journal_title：Human molecular genetics

authors： Deckert J,Catalano M,Syagailo YV,Bosi M,Okladnova O,Di Bella D,Nöthen MM,Maffei P,Franke P,Fritze J,Maier W,Propping P,Beckmann H,Bellodi L,Lesch KP

更新日期：1999-04-01 00:00:00

abstract：:The protein ataxin-3 (ATX3) triggers an amyloid-related neurodegenerative disease when its polyglutamine stretch is expanded beyond a critical threshold. We formerly demonstrated that the polyphenol epigallocatechin-3-gallate (EGCG) could redirect amyloid aggregation of a full-length, expanded ATX3 (ATX3-Q55) towards ...

journal_title：Human molecular genetics

authors： Visentin C,Pellistri F,Natalello A,Vertemara J,Bonanomi M,Gatta E,Penco A,Relini A,De Gioia L,Airoldi C,Regonesi ME,Tortora P

更新日期：2017-09-01 00:00:00

abstract：:With 46 subunits, human mitochondrial complex I is the largest enzyme of the oxidative phosphorylation system. We have studied the assembly of complex I in cultured human cells. This will provide essential information about the nature of complex I deficiencies and will enhance our understanding of mitochondrial diseas...

journal_title：Human molecular genetics

authors： Ugalde C,Vogel R,Huijbens R,Van Den Heuvel B,Smeitink J,Nijtmans L

更新日期：2004-10-15 00:00:00

abstract：:An unresolved issue about many neurodegenerative diseases is why neurons are particularly sensitive to defects in ubiquitous cellular processes. One example is Niemann Pick type C1, caused by defects in cholesterol trafficking in all cells, but where neurons are preferentially damaged. Understanding this selective fai...

journal_title：Human molecular genetics

authors： Ordonez MP,Roberts EA,Kidwell CU,Yuan SH,Plaisted WC,Goldstein LS

更新日期：2012-06-15 00:00:00

abstract：:Machado-Joseph disease (MJD) is an inherited neurodegenerative disorder caused by the expansion of the polyglutamine stretch in the MJD gene-encoded protein, ataxin-3. Using a series of deletion constructs expressing ataxin-3 fragments with expanded polyglutamine stretches, we observed aggregate formation and cell dea...

journal_title：Human molecular genetics

authors： Yoshizawa T,Yamagishi Y,Koseki N,Goto J,Yoshida H,Shibasaki F,Shoji S,Kanazawa I

更新日期：2000-01-01 00:00:00

abstract：:Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene. The MNK gene encodes a copper-transporting P-type ATPase, MNK, which is localized predominantly in the trans-Golgi network (TGN). The MNK protein relocates to the plasma membrane in cells exposed to elevated...

journal_title：Human molecular genetics

authors： Petris MJ,Strausak D,Mercer JF

更新日期：2000-11-22 00:00:00

abstract：:The contribution of BRCA1 and BRCA2 to familial and non-familial forms of breast cancer has been difficult to accurately estimate because of the myriad of potential genetic and epigenetic mechanisms that can ultimately influence their expression and involvement in cellular activities. As one of these potential mechani...

journal_title：Human molecular genetics

authors： Chen X,Weaver J,Bove BA,Vanderveer LA,Weil SC,Miron A,Daly MB,Godwin AK

更新日期：2008-05-01 00:00:00

abstract：:Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected s...

journal_title：Human molecular genetics

authors： Slavotinek AM,Mehrotra P,Nazarenko I,Tang PL,Lao R,Cameron D,Li B,Chu C,Chou C,Marqueling AL,Yahyavi M,Cordoro K,Frieden I,Glaser T,Prescott T,Morren MA,Devriendt K,Kwok PY,Petkovich M,Desnick RJ

更新日期：2013-02-15 00:00:00

abstract：:Atopic (allergic) asthma is the most common disease of childhood and is strongly genetic in origin. Many genome-wide screens for asthma and its associated traits have now been carried out, and genetic linkage has been consistently identified in several regions. It is probable that these loci contain major genes influe...

journal_title：Human molecular genetics

authors： Cookson WO,Moffatt MF

更新日期：2000-10-01 00:00:00

abstract：:Reduced sarcolemmal integrity in dystrophin-deficient muscles of mdx mice and Duchenne muscular dystrophy (DMD) patients has been reported to result in altered calcium homeostasis. Previous studies have shown a correlative relationship between calcium-dependent protease (calpain) activity in dystrophic muscle and musc...

journal_title：Human molecular genetics

authors： Spencer MJ,Mellgren RL

更新日期：2002-10-01 00:00:00

abstract：:The planar cell polarity (PCP) pathway, incorporating non-canonical Wnt signalling, controls embryonic convergent (CE) extension, polarized cell division and ciliary orientation. It also limits diameters of differentiating renal tubules, with mutation of certain components of the pathway causing cystic kidneys. Mutati...

journal_title：Human molecular genetics

authors： Yates LL,Papakrivopoulou J,Long DA,Goggolidou P,Connolly JO,Woolf AS,Dean CH

更新日期：2010-12-01 00:00:00

abstract：:Huntington's disease (HD) is caused by a polyglutamine expansion mutation in the huntingtin protein that confers a toxic gain-of-function and causes the protein to become aggregate-prone. Aggregate-prone proteins are cleared by macroautophagy, and upregulating this process by rapamycin, which inhibits the mammalian ta...

journal_title：Human molecular genetics

authors： Sarkar S,Krishna G,Imarisio S,Saiki S,O'Kane CJ,Rubinsztein DC

更新日期：2008-01-15 00:00:00

abstract：:Microdeletion at chromosomal position 15q13.3 has been described in intellectual disability, autism spectrum disorders, schizophrenia and recently in idiopathic generalized epilepsy (IGE). Using independent IGE cohorts, we first aimed to confirm the association of 15q13.3 deletions and IGE. We then set out to determin...

journal_title：Human molecular genetics

authors： Dibbens LM,Mullen S,Helbig I,Mefford HC,Bayly MA,Bellows S,Leu C,Trucks H,Obermeier T,Wittig M,Franke A,Caglayan H,Yapici Z,EPICURE Consortium.,Sander T,Eichler EE,Scheffer IE,Mulley JC,Berkovic SF

更新日期：2009-10-01 00:00:00

abstract：:Myotonic dystrophy type I (DM1) is an RNA-mediated disease caused by a non-coding CTG repeat expansion. A key feature of the RNA-mediated pathogenesis model for DM is the disrupted splicing of specific pre-mRNA targets. A link has been established between splicing regulation by CUG-BP1, a member of the CELF family of ...

journal_title：Human molecular genetics

authors： Ho TH,Bundman D,Armstrong DL,Cooper TA

更新日期：2005-06-01 00:00:00

abstract：:Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene. To test this theory, we performed a functional analysis of two missense mutations in ...

journal_title：Human molecular genetics

authors： Tang HK,Chao LY,Saunders GF

更新日期：1997-03-01 00:00:00

abstract：:By GenBank database searches and PCR, we have identified a novel human Bcl2-like gene, Bcl2-L-10, which contains conserved BH4, BH1 and BH2 domains but lacks BH3 domain. The Bcl2-L-10 gene has been assigned to chromosome 15q21.2. Transfection experiments demonstrated that Bcl2-L-10 can block apoptosis induced by inter...

journal_title：Human molecular genetics

authors： Zhang H,Holzgreve W,De Geyter C

更新日期：2001-10-01 00:00:00

abstract：:Recent genome-wide association studies (GWAS) and subsequent meta-analyses have identified over 25 SNPs at 18 loci, together accounting for >15% of the genetic susceptibility to testicular germ cell tumour (TGCT). To identify further common SNPs associated with TGCT, here we report a three-stage experiment, involving ...

journal_title：Human molecular genetics

authors： Litchfield K,Sultana R,Renwick A,Dudakia D,Seal S,Ramsay E,Powell S,Elliott A,Warren-Perry M,Eeles R,Peto J,Kote-Jarai Z,Muir K,Nsengimana J,UKTCC.,Stratton MR,Easton DF,Bishop DT,Huddart RA,Rahman N,Turnbull C,

更新日期：2015-02-15 00:00:00

abstract：:Hypomorphic mutations of the NBS1 gene are responsible for Nijmegen breakage syndrome (NBS), characterized by microcephaly, chromosomal instability, radiosensitivity, immunodeficiency and high cancer predisposition. Over 90% of NBS patients are homozygous for the 657Delta5 mutation and are of Slavic origin; however, 1...

journal_title：Human molecular genetics

authors： Varon R,Dutrannoy V,Weikert G,Tanzarella C,Antoccia A,Stöckl L,Spadoni E,Krüger LA,di Masi A,Sperling K,Digweed M,Maraschio P

更新日期：2006-03-01 00:00:00

abstract：:Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a...

journal_title：Human molecular genetics

authors： Cremers FP,van de Pol DJ,van Driel M,den Hollander AI,van Haren FJ,Knoers NV,Tijmes N,Bergen AA,Rohrschneider K,Blankenagel A,Pinckers AJ,Deutman AF,Hoyng CB

更新日期：1998-03-01 00:00:00

abstract：:The cone photoreceptor cyclic nucleotide-gated (CNG) channel is essential for central and color vision and visual acuity. Mutations in the channel subunits CNGA3 and CNGB3 are associated with achromatopsia and cone dystrophy. We investigated the gene expression profiles in mouse retina with CNG channel deficiency usin...

journal_title：Human molecular genetics

authors： Ma H,Thapa A,Morris LM,Michalakis S,Biel M,Frank MB,Bebak M,Ding XQ

更新日期：2013-10-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a fundamental question of ...

journal_title：Human molecular genetics

authors： Motyl AAL,Faller KME,Groen EJN,Kline RA,Eaton SL,Ledahawsky LM,Chaytow H,Lamont DJ,Wishart TM,Huang YT,Gillingwater TH

更新日期：2020-09-29 00:00:00

abstract：:l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct a...

journal_title：Human molecular genetics

authors： Topçu M,Jobard F,Halliez S,Coskun T,Yalçinkayal C,Gerceker FO,Wanders RJ,Prud'homme JF,Lathrop M,Ozguc M,Fischer J

更新日期：2004-11-15 00:00:00