Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin.

abstract：:Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases. Whereas PAX9 haploinsufficiency has been suggested as the underlying genetic mechanism, it is not known how this...

journal_title：Human molecular genetics

authors： Kist R,Watson M,Wang X,Cairns P,Miles C,Reid DJ,Peters H

更新日期：2005-12-01 00:00:00

abstract：:Periodontitis is a widespread, complex inflammatory disease of the mouth, which results in a loss of gingival tissue and alveolar bone, with aggressive periodontitis (AgP) as its most severe form. To identify genetic risk factors for periodontitis, we conducted a genome-wide association study in German AgP patients. W...

journal_title：Human molecular genetics

authors： Schaefer AS,Richter GM,Nothnagel M,Manke T,Dommisch H,Jacobs G,Arlt A,Rosenstiel P,Noack B,Groessner-Schreiber B,Jepsen S,Loos BG,Schreiber S

更新日期：2010-02-01 00:00:00

abstract：:Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with rece...

journal_title：Human molecular genetics

authors： Müller FB,Huber M,Kinaciyan T,Hausser I,Schaffrath C,Krieg T,Hohl D,Korge BP,Arin MJ

更新日期：2006-04-01 00:00:00

abstract：:Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle which manifests as a life-threatening hypermetabolic crisis triggered by commonly-used inhalation anaesthetics and depolarizing muscle relaxants. Defects in the ryanodine receptor (RYR1) protein have been proposed to under...

journal_title：Human molecular genetics

authors： Iles DE,Segers B,Sengers RC,Monsieurs K,Heytens L,Halsall PJ,Hopkins PM,Ellis FR,Hall-Curran JL,Stewart AD

更新日期：1993-07-01 00:00:00

abstract：:Paraoxonase is an arylesterase enzyme that is expressed in the liver and found in the circulation in association with apoA1 and the high-density lipoprotein, and prevents the accumulation of oxidized lipids in low-density lipoproteins in vitro. Common polymorphisms in genes encoding paraoxonase are established risk fa...

journal_title：Human molecular genetics

authors： Erlich PM,Lunetta KL,Cupples LA,Huyck M,Green RC,Baldwin CT,Farrer LA,MIRAGE Study Group.

更新日期：2006-01-01 00:00:00

abstract：:We have used inbred and congenic rat strains in F(2) segregation studies to discover epistasis in a polygenic model of hypertension. Previously, we have found evidence that the presence of a blood pressure quantitative trait locus (QTL) on chromosome 1 is conditional upon the allele status of chromosome 10. To prove t...

journal_title：Human molecular genetics

authors： Monti J,Plehm R,Schulz H,Ganten D,Kreutz R,Hübner N

更新日期：2003-02-15 00:00:00

abstract：:Forty-nine individuals have been identified with deletions or translocations involving the short arm of chromosome 5. While most display the classical phenotype of the cri-du-chat syndrome, several of the patients do not have the syndrome or have only a subset of the clinical features. Somatic cell hybrids containing ...

journal_title：Human molecular genetics

authors： Overhauser J,Huang X,Gersh M,Wilson W,McMahon J,Bengtsson U,Rojas K,Meyer M,Wasmuth JJ

更新日期：1994-02-01 00:00:00

abstract：:Superovulation or ovarian stimulation is currently an indispensable assisted reproductive technology (ART) for human subfertility/infertility treatment. Recently, increased frequencies of imprinting disorders have been correlated with ARTs. Significantly, for Angelman and Beckwith-Wiedemann Syndromes, patients have be...

journal_title：Human molecular genetics

authors： Market-Velker BA,Zhang L,Magri LS,Bonvissuto AC,Mann MR

更新日期：2010-01-01 00:00:00

abstract：:An amphibian homologue of the human cystic fibrosis transmembrane conductance regulator (CFTR) gene has been isolated from Xenopus laevis by polymerase chain reaction (PCR) amplification. The 4455bp sequence encodes a predicted polypeptide of 1485 amino acids which has an overall homology at the amino acid level of 77...

journal_title：Human molecular genetics

authors： Tucker SJ,Tannahill D,Higgins CF

更新日期：1992-05-01 00:00:00

abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder with no efficient treatment that is caused in the majority of cases by mutations in the gene methyl-CpG binding-protein 2 (MECP2). RTT becomes manifest after a period of apparently normal development and causes growth deceleration, severe psychomotor impairment and ...

journal_title：Human molecular genetics

authors： Ricciardi S,Boggio EM,Grosso S,Lonetti G,Forlani G,Stefanelli G,Calcagno E,Morello N,Landsberger N,Biffo S,Pizzorusso T,Giustetto M,Broccoli V

更新日期：2011-03-15 00:00:00

abstract：:Induced pluripotent stem cell (iPSC)-derived cortical neurons potentially present a powerful new model to understand corticogenesis and neurological disease. Previous work has established that differentiation protocols can produce cortical neurons, but little has been done to characterize these at cellular resolution....

journal_title：Human molecular genetics

authors： Handel AE,Chintawar S,Lalic T,Whiteley E,Vowles J,Giustacchini A,Argoud K,Sopp P,Nakanishi M,Bowden R,Cowley S,Newey S,Akerman C,Ponting CP,Cader MZ

更新日期：2016-03-01 00:00:00

abstract：:A strong association between ERAP1 and ankylosing spondylitis (AS) was recently identified by the Wellcome Trust Case Control Consortium and the Australo-Anglo-American Spondylitis Consortium (WTCCC-TASC) study. ERAP1 is highly polymorphic with strong linkage disequilibrium evident across the gene. We therefore conduc...

journal_title：Human molecular genetics

authors： Harvey D,Pointon JJ,Evans DM,Karaderi T,Farrar C,Appleton LH,Sturrock RD,Stone MA,Oppermann U,Brown MA,Wordsworth BP

更新日期：2009-11-01 00:00:00

abstract：:The short stature homeobox gene SHOX encodes a transcription factor which is important for normal limb development. In humans, SHOX deficiency has been associated with various short stature syndromes including Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia and Turner syndrome as well as non-syndromic i...

journal_title：Human molecular genetics

authors： Decker E,Durand C,Bender S,Rödelsperger C,Glaser A,Hecht J,Schneider KU,Rappold G

更新日期：2011-04-15 00:00:00

abstract：:P-selectin is an adhesion molecule, expressed at the surface of activated cells, that mediates the interaction of activated endothelial cells or platelets with leukocytes. P-selectin expression is increased in atherosclerotic plaques, and high plasma levels of this molecule have been observed in patients with unstable...

journal_title：Human molecular genetics

authors： Herrmann SM,Ricard S,Nicaud V,Mallet C,Evans A,Ruidavets JB,Arveiler D,Luc G,Cambien F

更新日期：1998-08-01 00:00:00

abstract：:Fragile X syndrome is the most frequent cause of heritable mental retardation. Most patients have a mutation in the 5' untranslated region of the FMR1 gene, consisting of the amplification of a polymorphic (CGG)nrepeat sequence, and cytogenetically express the folate-sensitive fragile site FRAXA in Xq27.3. Fragile X p...

journal_title：Human molecular genetics

authors： Chiurazzi P,Pomponi MG,Willemsen R,Oostra BA,Neri G

更新日期：1998-01-01 00:00:00

abstract：:Inherited peripheral neuropathies are a heterogeneous group of disorders that can affect patients of all ages. Children with inherited neuropathy often develop severe disability, but the genetic causes of recessive early-onset axonal neuropathies are not fully known. We have taken a whole-exome sequencing approach to ...

journal_title：Human molecular genetics

authors： Ylikallio E,Pöyhönen R,Zimon M,De Vriendt E,Hilander T,Paetau A,Jordanova A,Lönnqvist T,Tyynismaa H

更新日期：2013-08-01 00:00:00

abstract：:Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. Brain-derived neurotroph...

journal_title：Human molecular genetics

authors： Ribasés M,Gratacòs M,Fernández-Aranda F,Bellodi L,Boni C,Anderluh M,Cavallini MC,Cellini E,Di Bella D,Erzegovesi S,Foulon C,Gabrovsek M,Gorwood P,Hebebrand J,Hinney A,Holliday J,Hu X,Karwautz A,Kipman A,Komel R,Na

更新日期：2004-06-15 00:00:00

abstract：:The mutation causing myotonic dystrophy (DM) has recently been identified as an unstable CTG trinucleotide repeat located in the 3' untranslated region of a gene encoding for a protein with putative serine-threonine protein kinase activity. In this report we present the genomic sequences of the human and murine DM kin...

journal_title：Human molecular genetics

authors： Mahadevan MS,Amemiya C,Jansen G,Sabourin L,Baird S,Neville CE,Wormskamp N,Segers B,Batzer M,Lamerdin J

更新日期：1993-03-01 00:00:00

abstract：:A cDNA for Fanconi anaemia complementation group C (FACC) has recently been cloned. We have now isolated a yeast artificial chromosome clone containing the FACC gene, and used vectorette PCR to determine its exon structure. The 1674-nucleotide coding sequence of the gene is highly interrupted, and contains 14 exons ra...

journal_title：Human molecular genetics

authors： Gibson RA,Buchwald M,Roberts RG,Mathew CG

更新日期：1993-01-01 00:00:00

abstract：:Mutations in the gene encoding the inner nuclear membrane proteins lamins A and C produce cardiac and skeletal muscle dysfunction referred to as Emery Dreifuss muscular dystrophy. Lamins A and C participate in the LINC complex that, along with the nesprin and SUN proteins, LInk the Nucleoskeleton with the Cytoskeleton...

journal_title：Human molecular genetics

authors： Puckelwartz MJ,Kessler E,Zhang Y,Hodzic D,Randles KN,Morris G,Earley JU,Hadhazy M,Holaska JM,Mewborn SK,Pytel P,McNally EM

更新日期：2009-02-15 00:00:00

abstract：:OPA1 mutations are the major cause of dominant optic atrophy (DOA) and the syndromic form DOA plus, pathologies for which there is no established cure. We used a 'drug repurposing' approach to identify FDA-approved molecules able to rescue the mitochondrial dysfunctions induced by OPA1 mutations. We screened two diffe...

journal_title：Human molecular genetics

authors： Aleo SJ,Del Dotto V,Fogazza M,Maresca A,Lodi T,Goffrini P,Ghelli A,Rugolo M,Carelli V,Baruffini E,Zanna C

更新日期：2021-01-21 00:00:00

abstract：:Whether XIST RNA is indifferent to the sequence content of the chromosome is fundamental to understanding its mechanism of chromosomal inactivation. Transgenic Xist RNA appears to associate with and inactivate an entire autosome. However, the behavior of XIST RNA on naturally occurring human X;autosome translocations ...

journal_title：Human molecular genetics

authors： Hall LL,Clemson CM,Byron M,Wydner K,Lawrence JB

更新日期：2002-12-01 00:00:00

abstract：:Apoptosis is a morphologically distinct form of cell death involved in many physiological and pathological processes. The regulation of Fas/Apo-1 involved in membrane-mediated apoptosis has also been known to play crucial roles in many systems. More and more naturally occurring antisense RNAs are now known to regulate...

journal_title：Human molecular genetics

authors： Yan MD,Hong CC,Lai GM,Cheng AL,Lin YW,Chuang SE

更新日期：2005-06-01 00:00:00

abstract：:Brugada syndrome (BrS) is an inherited cardiac arrhythmic disorder that can lead to sudden death, with a prevalence of 1:5000 in Caucasian population and affecting mainly male patients in their third to fourth decade of life. BrS is inherited as an autosomal dominant trait; however, to date genetic bases have been onl...

journal_title：Human molecular genetics

authors： Di Resta C,Pietrelli A,Sala S,Della Bella P,De Bellis G,Ferrari M,Bordoni R,Benedetti S

更新日期：2015-10-15 00:00:00

abstract：:Ataxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX, which encodes the DNA strand-break repair protein aprataxin (APTX). CoQ10 deficiency has been identified in fibroblasts and muscle of AOA1 patients carrying the common W279X mutation, and aprataxin has been localized...

journal_title：Human molecular genetics

authors： Garcia-Diaz B,Barca E,Balreira A,Lopez LC,Tadesse S,Krishna S,Naini A,Mariotti C,Castellotti B,Quinzii CM

更新日期：2015-08-15 00:00:00

abstract：:Mutations in mitochondrial DNA (mtDNA) are associated with a broad spectrum of clinical disorders. The segregation pattern of pathogenic mtDNAs is an important determinant of both the onset and the severity of the disease phenotype, but the mechanisms controlling mtDNA segregation remain poorly understood. To investig...

journal_title：Human molecular genetics

authors： Battersby BJ,Redpath ME,Shoubridge EA

更新日期：2005-09-01 00:00:00

abstract：:Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated in human CHS and bg mic...

journal_title：Human molecular genetics

authors： Barbosa MD,Barrat FJ,Tchernev VT,Nguyen QA,Mishra VS,Colman SD,Pastural E,Dufourcq-Lagelouse R,Fischer A,Holcombe RF,Wallace MR,Brandt SJ,de Saint Basile G,Kingsmore SF

更新日期：1997-07-01 00:00:00

abstract：:To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin. ...

journal_title：Human molecular genetics

authors： Vainzof M,Passos-Bueno MR,Canovas M,Moreira ES,Pavanello RC,Marie SK,Anderson LV,Bonnemann CG,McNally EM,Nigro V,Kunkel LM,Zatz M

更新日期：1996-12-01 00:00:00

abstract：:The purpose of this study was to investigate the link between mutant huntingtin (Htt) and neuronal damage in relation to mitochondria in Huntington's disease (HD). In an earlier study, we determined the relationship between mutant Htt and mitochondrial dynamics/synaptic viability in HD patients. We found mitochondrial...

journal_title：Human molecular genetics

authors： Shirendeb UP,Calkins MJ,Manczak M,Anekonda V,Dufour B,McBride JL,Mao P,Reddy PH

更新日期：2012-01-15 00:00:00

abstract：:A randomization procedure to evaluate the significance level and the false-discovery rate in complex microarray experiments is proposed. A related graph can be used to compare different test statistics that can be used to analyze the same experiment. This graph is closely related to receiver operator characteristic (R...

journal_title：Human molecular genetics

authors： Kooperberg C,Sipione S,LeBlanc M,Strand AD,Cattaneo E,Olson JM

更新日期：2002-09-15 00:00:00