Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk.

abstract：:γ-secretase is a macromolecular complex that catalyzes intramembranous hydrolysis of more than 100 membrane-bound substrates. The complex is composed of presenilin (PS1 or PS2), anterior pharynx defect-1 (APH-1), nicastrin (NCT) and PEN-2 and early-onset; autosomal dominant forms of Alzheimer's disease (AD) are caused...

journal_title：Human molecular genetics

authors： Zhang X,Zhang C,Prokopenko D,Liang Y,Han W,Tanzi RE,Sisodia SS

更新日期：2020-04-15 00:00:00

abstract：:The ultimate goal of muscular dystrophy gene therapy is to treat all muscles in the body. Global gene delivery was demonstrated in dystrophic mice more than a decade ago using adeno-associated virus (AAV). However, translation to affected large mammals has been challenging. The only reported attempt was performed in n...

journal_title：Human molecular genetics

authors： Yue Y,Pan X,Hakim CH,Kodippili K,Zhang K,Shin JH,Yang HT,McDonald T,Duan D

更新日期：2015-10-15 00:00:00

abstract：:The tumour suppressor gene PTEN encodes a dual-specificity phosphatase that recognizes protein substrates and phosphatidylinositol-3,4,5-triphosphate. PTEN seems to play multiple roles in tumour suppression and the blockade of phosphoinositide-3-kinase signalling is important for its growth suppressive effects, althou...

journal_title：Human molecular genetics

authors： Weng LP,Smith WM,Brown JL,Eng C

更新日期：2001-03-15 00:00:00

abstract：:The molecular mechanisms regulating expression of utrophin A are of therapeutic interest since upregulating its expression at the sarcolemma can compensate for the lack of dystrophin in animal models of Duchenne Muscular Dystrophy (DMD). The 5'-UTR of utrophin A has been previously shown to drive cap-independent inter...

journal_title：Human molecular genetics

authors： Miura P,Coriati A,Bélanger G,De Repentigny Y,Lee J,Kothary R,Holcik M,Jasmin BJ

更新日期：2010-04-01 00:00:00

abstract：:Lysosomes, melanosomes and platelet-dense granules are abnormal in the mouse hypopigmentation mutant pearl. The beta3A subunit of the AP-3 adaptor complex, which likely regulates protein trafficking in the trans - Golgi network/endosomal compartments, was identified as a candidate for the pearl gene by a positional/ca...

journal_title：Human molecular genetics

authors： Feng L,Seymour AB,Jiang S,To A,Peden AA,Novak EK,Zhen L,Rusiniak ME,Eicher EM,Robinson MS,Gorin MB,Swank RT

更新日期：1999-02-01 00:00:00

abstract：:Growing evidence suggests that amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disease that primarily affects motor neurons and, though less evidently, other neuronal systems. About 75% of sporadic and familial ALS patients show a subclinical degeneration of small-diameter fibers, as measured by...

journal_title：Human molecular genetics

authors： Sassone J,Taiana M,Lombardi R,Porretta-Serapiglia C,Freschi M,Bonanno S,Marcuzzo S,Caravello F,Bendotti C,Lauria G

更新日期：2016-04-15 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：:Huntington's disease (HD) is one of a class of inherited progressive neurodegenerative disorders that are caused by a CAG/polyglutamine repeat expansion. We have previously generated mice that are transgenic for exon 1 of the HD gene carrying highly expanded CAG repeats which develop a progressive movement disorder an...

journal_title：Human molecular genetics

authors： Sathasivam K,Hobbs C,Turmaine M,Mangiarini L,Mahal A,Bertaux F,Wanker EE,Doherty P,Davies SW,Bates GP

更新日期：1999-05-01 00:00:00

abstract：:A polyglutamine expansion within the ataxin-1 protein (ATXN1) underlies spinocerebellar ataxia type-1 (SCA1), a neurological disorder mainly characterized by ataxia and cerebellar deficits. In SCA1, both loss and gain of ATXN1 biological functions contribute to cerebellar pathogenesis. However, the critical ATXN1 func...

journal_title：Human molecular genetics

authors： Sánchez I,Balagué E,Matilla-Dueñas A

更新日期：2016-09-15 00:00:00

abstract：:Expression of misfolded protein in cultured cells frequently leads to the formation of juxtanuclear inclusions that have been termed 'aggresomes'. Aggresome formation is an active cellular response that involves trafficking of the offending protein along microtubules, reorganization of intermediate filaments and recru...

journal_title：Human molecular genetics

authors： Taylor JP,Tanaka F,Robitschek J,Sandoval CM,Taye A,Markovic-Plese S,Fischbeck KH

更新日期：2003-04-01 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：:Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a major impairment of visual acuity, nystagmus, strabismus, photophobia and retinal hypopigmentation. From the analysis of patients carrying deletions and translocations involving the distal short arm of the X chromosome (Xp22.3) we have i...

journal_title：Human molecular genetics

authors： Schiaffino MV,Bassi MT,Rugarli EI,Renieri A,Galli L,Ballabio A

更新日期：1995-03-01 00:00:00

abstract：:The clinical manifestations of inherited neurodegenerative diseases are often delayed for periods from years to decades. This observation has led to the idea that, in these disorders, neurons die from cumulative damage. A critical prediction of the cumulative damage hypothesis is that the probability of neuronal death...

journal_title：Human molecular genetics

authors： Clarke G,Lumsden CJ,McInnes RR

更新日期：2001-10-01 00:00:00

abstract：:Cerebrospinal fluid amyloid-beta 1-42 (Aβ1-42) and phosphorylated Tau at position 181 (pTau181) are biomarkers of Alzheimer's disease (AD). We performed an analysis and meta-analysis of genome-wide association study data on Aβ1-42 and pTau181 in AD dementia patients followed by independent replication. An association ...

journal_title：Human molecular genetics

authors： Ramirez A,van der Flier WM,Herold C,Ramonet D,Heilmann S,Lewczuk P,Popp J,Lacour A,Drichel D,Louwersheimer E,Kummer MP,Cruchaga C,Hoffmann P,Teunissen C,Holstege H,Kornhuber J,Peters O,Naj AC,Chouraki V,Bellenguez C

更新日期：2014-12-15 00:00:00

abstract：:Huntington's disease is a dominantly inherited neurodegenerative disease caused by the expansion of a CAG repeat in the HTT gene. In addition to the length of the CAG expansion, factors such as genetic background have been shown to contribute to the age at onset of neurological symptoms. A central challenge in underst...

journal_title：Human molecular genetics

authors： Ament SA,Pearl JR,Grindeland A,St Claire J,Earls JC,Kovalenko M,Gillis T,Mysore J,Gusella JF,Lee JM,Kwak S,Howland D,Lee MY,Baxter D,Scherler K,Wang K,Geman D,Carroll JB,MacDonald ME,Carlson G,Wheeler VC,Price N

更新日期：2017-03-01 00:00:00

abstract：:Steroid 11 beta-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol. Severely affected patients carry mutations in the CYB11B1 gene that destroy enzymatic activity. Such patients have signs of androgen excess and usually have hyperten...

journal_title：Human molecular genetics

authors： Joehrer K,Geley S,Strasser-Wozak EM,Azziz R,Wollmann HA,Schmitt K,Kofler R,White PC

更新日期：1997-10-01 00:00:00

abstract：:The genetic defect underlying myotonic dystrophy (DM) has been identified as the expansion of an unstable trinucleotide repeat sequence, and this discovery has led to new approaches to diagnosis and genetic counselling in families with the disorder. We report the genetic analysis of a consanguineous DM family in which...

journal_title：Human molecular genetics

authors： Cobo A,Martinez JM,Martorell L,Baiget M,Johnson K

更新日期：1993-06-01 00:00:00

abstract：:The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization of the calvarium, shorten...

journal_title：Human molecular genetics

authors： Zhang W,Taylor SP,Nevarez L,Lachman RS,Nickerson DA,Bamshad M,University of Washington Center for Mendelian Genomics Consortium.,Krakow D,Cohn DH

更新日期：2016-09-15 00:00:00

abstract：:Gene transfer studies for the treatment of hemophilia began more than two decades ago. A large body of pre-clinical work evaluated a variety of vectors and target tissues, but by the start of the new millennium it became evident that adeno-associated viral (AAV)-mediated gene transfer to the liver held great promise a...

journal_title：Human molecular genetics

authors： High KA,Anguela XM

更新日期：2016-04-15 00:00:00

abstract：:The gene B lymphocyte kinase (BLK) is associated with rheumatoid arthritis, systemic lupus erythematosus and several other autoimmune disorders. The disease risk haplotype is known to be associated with reduced expression of BLK mRNA transcript in human B cell lines; however, little is known about cis-regulation of BL...

journal_title：Human molecular genetics

authors： Simpfendorfer KR,Olsson LM,Manjarrez Orduño N,Khalili H,Simeone AM,Katz MS,Lee AT,Diamond B,Gregersen PK

更新日期：2012-09-01 00:00:00

abstract：:Nebulin is a large skeletal muscle protein wound around the thin filaments, with its C-terminus embedded within the Z-disk and its N-terminus extending out toward the thin filament pointed end. While nebulin's C-terminus has been implicated in both sarcomeric structure and function as well as the development of nemali...

journal_title：Human molecular genetics

authors： Li F,Barton ER,Granzier H

更新日期：2019-05-15 00:00:00

abstract：:The positions of DNA replication initiation regions (IRs) at three human trinucleotide repeat (TNR) disease loci were examined in order to characterize the role played by IRs in explaining the known locus-specific variation in TNR instability levels. Using three different normal cell lines, candidate IRs were identifi...

journal_title：Human molecular genetics

authors： Nenguke T,Aladjem MI,Gusella JF,Wexler NS,Arnheim N,Venezuela HD Project.

更新日期：2003-05-01 00:00:00

abstract：:Human cytidine deaminase APOBEC3G and the virion infectivity factor (vif) of the human immunodeficiency virus (HIV) are a pair of antagonistic molecules. In the absence of vif, APOBEC3G induces a high rate of dC to dU mutations in the nascent reverse transcripts of HIV that leads to the degradation of the HIV genome. ...

journal_title：Human molecular genetics

authors： Zhang J,Webb DM

更新日期：2004-08-15 00:00:00

abstract：:Despite the immense significance retrotransposons have had for genome evolution much about their biology is unknown, including the processes of forming their ribonucleoprotein (RNP) particles and transporting them about the cell. Suppression of retrotransposon expression, together with the presence of retrotransposon ...

journal_title：Human molecular genetics

authors： Goodier JL,Mandal PK,Zhang L,Kazazian HH Jr

更新日期：2010-05-01 00:00:00

abstract：:Fragile X syndrome, the most common form of inherited mental retardation, is caused by the loss of the fragile X mental retardation protein (FMRP). FMRP is a ubiquitously expressed, multi-domain RNA-binding protein, but its in vivo function remains poorly understood. Recent studies have shown that FMRP participates in...

journal_title：Human molecular genetics

authors： Liu W,Jiang F,Bi X,Zhang YQ

更新日期：2012-11-01 00:00:00

abstract：:Insulin resistance (IR) is a key determinant of type 2 diabetes (T2D) and other metabolic disorders. This genome-wide association study (GWAS) was designed to shed light on the genetic basis of fasting insulin (FI) and IR in 927 non-diabetic African Americans. 5 396 838 single-nucleotide polymorphisms (SNPs) were test...

journal_title：Human molecular genetics

authors： Chen G,Bentley A,Adeyemo A,Shriner D,Zhou J,Doumatey A,Huang H,Ramos E,Erdos M,Gerry N,Herbert A,Christman M,Rotimi C

更新日期：2012-10-15 00:00:00

abstract：:Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic syndrome presenting in early life, Finnish type congenital nephrotic syndrome (CNF) and a form of autosomal recessive familial focal segmental glomerulosclerosis (SRN1), respectively. To inves...

journal_title：Human molecular genetics

authors： Koziell A,Grech V,Hussain S,Lee G,Lenkkeri U,Tryggvason K,Scambler P

更新日期：2002-02-15 00:00:00

abstract：:X chromosome inactivation (XCI) is an epigenetic mechanism that silences the majority of genes on one X chromosome in females. Previous studies have suggested that the spread of XCI might be facilitated in part by common repeats such as long interspersed nuclear elements (LINEs). However, owing to the unusual sequence...

journal_title：Human molecular genetics

authors： Bala Tannan N,Brahmachary M,Garg P,Borel C,Alnefaie R,Watson CT,Thomas NS,Sharp AJ

更新日期：2014-03-01 00:00:00

abstract：:Gene amplification is a common phenomenon in malignant neoplasms of all types. One mechanism behind increased gene copy number is the formation of ring chromosomes. Such structures are mitotically unstable and during tumor progression they accumulate material from many different parts of the genome. Hence, their conte...

journal_title：Human molecular genetics

authors： Nord KH,Macchia G,Tayebwa J,Nilsson J,Vult von Steyern F,Brosjö O,Mandahl N,Mertens F

更新日期：2014-02-15 00:00:00

abstract：:Inherited mutations in the BRCA1 gene are known to confer a predisposition to breast and ovarian cancer. We have first characterized 19 sequence variants in the BRCA1 gene during mutation screening by direct sequencing using DNA samples from breast/ovarian cancer patients or obligate carriers. The frequencies of these...

journal_title：Human molecular genetics

authors： Durocher F,Shattuck-Eidens D,McClure M,Labrie F,Skolnick MH,Goldgar DE,Simard J

更新日期：1996-06-01 00:00:00