Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.

abstract：:To maintain the female reproductive lifespan, the majority of ovarian primordial follicles are preserved in a quiescent state in order to provide ova for later reproductive life. However, the molecular mechanism that maintains the long quiescence of primordial follicles is poorly understood. Here we provide genetic ev...

journal_title：Human molecular genetics

authors： Adhikari D,Zheng W,Shen Y,Gorre N,Hämäläinen T,Cooney AJ,Huhtaniemi I,Lan ZJ,Liu K

更新日期：2010-02-01 00:00:00

abstract：:Cilia are evolutionarily conserved organelles endowed with essential physiological and developmental functions. In humans, disruption of cilia motility or signaling leads to complex pleiotropic genetic disorders called ciliopathies. Cilia motility requires the assembly of multi-subunit motile components such as dynein...

journal_title：Human molecular genetics

authors： Jerber J,Baas D,Soulavie F,Chhin B,Cortier E,Vesque C,Thomas J,Durand B

更新日期：2014-02-01 00:00:00

abstract：:A transcription map of the Huntington disease gene region was generated by a direct cDNA selection strategy using genomic DNA from the 4p16.3 region surrounding the D4S95 and D4S127 loci. A total of 58 cDNA fragments were obtained from cDNAs derived from fetal brain, frontal cortex, liver and bone marrow following hyb...

journal_title：Human molecular genetics

authors： Rommens JM,Lin B,Hutchinson GB,Andrew SE,Goldberg YP,Glaves ML,Graham R,Lai V,McArthur J,Nasir J

更新日期：1993-07-01 00:00:00

abstract：:The defective gene responsible for the recessively inherited immunodeficiency X-linked agammaglobulinemia (XLA) has been shown to encode a cytoplasmic protein tyrosine kinase of the Src family designated Btk (Bruton's tyrosine kinase). To facilitate the search for germline mutations of the Btk gene, we have characteri...

journal_title：Human molecular genetics

authors： Hagemann TL,Chen Y,Rosen FS,Kwan SP

更新日期：1994-10-01 00:00:00

abstract：:The TRPS1 gene codes for a 1281 amino acids nuclear transcription factor with an unusual combination of different types of zinc finger motifs, including GATA-type DNA-binding and IKAROS-like zinc fingers. TRPS1 is a repressor of GATA-regulated genes and implicated in the human tricho-rhino-phalangeal syndromes. We fou...

journal_title：Human molecular genetics

authors： Kaiser FJ,Tavassoli K,Van den Bemd GJ,Chang GT,Horsthemke B,Möröy T,Lüdecke HJ

更新日期：2003-06-01 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：:Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in membrane repair, providing a potential hypothesis to the underlying pathophysiology of these diseases. The size of the dysferlin cDNA prevents...

journal_title：Human molecular genetics

authors： Lostal W,Bartoli M,Bourg N,Roudaut C,Bentaïb A,Miyake K,Guerchet N,Fougerousse F,McNeil P,Richard I

更新日期：2010-05-15 00:00:00

abstract：:Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role in DMD pathology modulating muscle inflammation and regeneration. A polymorphism in the SPP1 promoter (rs28357094) has been recognized as a genetic modifier of DMD, and there is evidence su...

journal_title：Human molecular genetics

authors： Vianello S,Pantic B,Fusto A,Bello L,Galletta E,Borgia D,Gavassini BF,Semplicini C,Sorarù G,Vitiello L,Pegoraro E

更新日期：2017-09-01 00:00:00

abstract：:Neurons throughout the brain suddenly discharging synchronously and recurrently cause primarily generalized seizures. Discharges localized awhile in one part of the brain cause focal-onset seizures. A genetically determined generalized hyperexcitability had been predicted in primarily generalized seizures, but surpris...

journal_title：Human molecular genetics

authors： Turnbull J,Lohi H,Kearney JA,Rouleau GA,Delgado-Escueta AV,Meisler MH,Cossette P,Minassian BA

更新日期：2005-10-15 00:00:00

abstract：:The presence of an extra Y chromosome in males is a relatively common occurrence, the 47,XYY karyotype being found in approximately 1 in 1000 male births. The error of disjunction must occur either during paternal meiosis II or as a post-zygotic mitotic error, both of which are rare events for other chromosomes. It is...

journal_title：Human molecular genetics

authors： Robinson DO,Jacobs PA

更新日期：1999-11-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) depletion syndrome (MDS), an autosomal recessive condition, is characterized by variable organ involvement with decreased mtDNA copy number and activities of respiratory chain enzymes in affected tissues. MtDNA depletion has been associated with mutations in nine autosomal genes, including th...

journal_title：Human molecular genetics

authors： Akman HO,Dorado B,López LC,García-Cazorla A,Vilà MR,Tanabe LM,Dauer WT,Bonilla E,Tanji K,Hirano M

更新日期：2008-08-15 00:00:00

abstract：:Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs. The gene for this disorder has been mapped by linkage studies to chromosomal region 10q24. Here we show that mutations in the LGI1 gene segregate with EPT in two ...

journal_title：Human molecular genetics

authors： Morante-Redolat JM,Gorostidi-Pagola A,Piquer-Sirerol S,Sáenz A,Poza JJ,Galán J,Gesk S,Sarafidou T,Mautner VF,Binelli S,Staub E,Hinzmann B,French L,Prud'homme JF,Passarelli D,Scannapieco P,Tassinari CA,Avanzini G,Martí

更新日期：2002-05-01 00:00:00

abstract：:Interpretation of genetic association results is difficult because signals often lack biological context. To generate hypotheses of the functional genetic etiology of complex cardiometabolic traits, we estimated the genetically determined component of gene expression from common variants using PrediXcan (1) and determ...

journal_title：Human molecular genetics

authors： Petty LE,Highland HM,Gamazon ER,Hu H,Karhade M,Chen HH,de Vries PS,Grove ML,Aguilar D,Bell GI,Huff CD,Hanis CL,Doddapaneni H,Munzy DM,Gibbs RA,Ma J,Parra EJ,Cruz M,Valladares-Salgado A,Arking DE,Barbeira A,Im HK

更新日期：2019-04-01 00:00:00

abstract：:Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The difficulty of developing a precise method to determine the expansion size has hampered the study of possible correlations between the hexanucleotid...

journal_title：Human molecular genetics

authors： Dols-Icardo O,García-Redondo A,Rojas-García R,Sánchez-Valle R,Noguera A,Gómez-Tortosa E,Pastor P,Hernández I,Esteban-Pérez J,Suárez-Calvet M,Antón-Aguirre S,Amer G,Ortega-Cubero S,Blesa R,Fortea J,Alcolea D,Capdevila A,

更新日期：2014-02-01 00:00:00

abstract：:LINE-1 elements comprise approximately 17% of human DNA and their mobility continues to impact genome evolution. However, little is known about the types of non-transformed cells that can support LINE-1 retrotransposition. Here, we show that human embryonic stem cells express endogenous LINE-1 elements and can accommo...

journal_title：Human molecular genetics

authors： Garcia-Perez JL,Marchetto MC,Muotri AR,Coufal NG,Gage FH,O'Shea KS,Moran JV

更新日期：2007-07-01 00:00:00

abstract：:Ciliopathies form a group of inherited disorders sharing several clinical manifestations because of abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important ...

journal_title：Human molecular genetics

authors： Li J,Lu D,Liu H,Williams BO,Overbeek PA,Lee B,Zheng L,Yang T

更新日期：2017-08-01 00:00:00

abstract：:Neonatal dried blood spots (NDBS) are a widely banked sample source that enables retrospective investigation into early life molecular events. Here, we performed low-pass whole genome bisulfite sequencing (WGBS) of 86 NDBS DNA to examine early life Down syndrome (DS) DNA methylation profiles. DS represents an example ...

journal_title：Human molecular genetics

authors： Laufer BI,Hwang H,Jianu JM,Mordaunt CE,Korf IF,Hertz-Picciotto I,LaSalle JM

更新日期：2021-01-06 00:00:00

abstract：:The development of small animal models is of major interest to unravel the pathogenesis and treatment of neurodegenerative diseases, especially because of their potential in large-scale chemical and genetic screening. We have investigated the zebrafish as a model to study amyotrophic lateral sclerosis (ALS), a fatal n...

journal_title：Human molecular genetics

authors： Lemmens R,Van Hoecke A,Hersmus N,Geelen V,D'Hollander I,Thijs V,Van Den Bosch L,Carmeliet P,Robberecht W

更新日期：2007-10-01 00:00:00

abstract：:The deposition of amyloid-beta (Aβ) aggregates in the brain is a major pathological hallmark of Alzheimer's disease (AD). Aβ is generated from the cleavage of C-terminal fragments of the amyloid precursor protein (APP-CTFs) by γ-secretase, an intramembrane-cleaving protease with multiple substrates, including the Notc...

journal_title：Human molecular genetics

authors： Mosser S,Alattia JR,Dimitrov M,Matz A,Pascual J,Schneider BL,Fraering PC

更新日期：2015-01-15 00:00:00

abstract：:The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced expression of the survival motor neuron (SMN) gene. Previous studies using in vitro model systems and lower organisms have suggested that low levels of Smn protein disrupt prenatal developmental processes in lower motor neurons, infl...

journal_title：Human molecular genetics

authors： Murray LM,Lee S,Bäumer D,Parson SH,Talbot K,Gillingwater TH

更新日期：2010-02-01 00:00:00

abstract：:Diabetic retinopathy is a leading cause of blindness. The purpose of this study is to identify novel genetic loci associated with the sight threatening complications of diabetic retinopathy. We performed a meta-analysis of genome-wide association data for severe diabetic retinopathy as defined by diabetic macular edem...

journal_title：Human molecular genetics

authors： Grassi MA,Tikhomirov A,Ramalingam S,Below JE,Cox NJ,Nicolae DL

更新日期：2011-06-15 00:00:00

abstract：:Over the past decades the search for disease causing variants has been focusing exclusively on the coding genome. This highly selective approach has been extremely successful resulting in the identification of thousands of disease genes, but ignores the functional and therefore disease relevance of the rest of the gen...

journal_title：Human molecular genetics

authors： Spielmann M,Mundlos S

更新日期：2016-10-01 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：:Paraspeckles are nuclear bodies formed by a set of specialized proteins assembled on the long non-coding RNA NEAT1; they have a role in nuclear retention of hyperedited transcripts and are associated with response to cellular stress. Fused in sarcoma (FUS) protein, linked to a number of neurodegenerative disorders, is...

journal_title：Human molecular genetics

authors： Shelkovnikova TA,Robinson HK,Troakes C,Ninkina N,Buchman VL

更新日期：2014-05-01 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：:Ciliary trafficking defects underlie the pathogenesis of severe human ciliopathies, including Joubert Syndrome (JBTS), Bardet-Biedl Syndrome, and some forms of retinitis pigmentosa (RP). Mutations in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are common causes of RP-associated photoreceptor degen...

journal_title：Human molecular genetics

authors： Rao KN,Zhang W,Li L,Anand M,Khanna H

更新日期：2016-10-15 00:00:00

abstract：:The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in the regulatory regions of the apolipoprotein E (APOE) gene modify the well-established epsilon4-associated risk for Alzheimer's disease (AD). Sequencing of the APOE gene regulatory regions revealed four previously reported promo...

journal_title：Human molecular genetics

authors： Belbin O,Dunn JL,Ling Y,Morgan L,Chappell S,Beaumont H,Warden D,Smith DA,Kalsheker N,Morgan K

更新日期：2007-09-15 00:00:00

abstract：:During human spermatogenesis, germ cells undergo dynamic changes in chromatin organization/re-packaging and in transcriptomes. In order to better understand the underlying mechanism(s), scATAC-Seq of 5376 testicular cells from 3 normal men were performed. Data were analyzed in parallel with the scRNA-Seq data of human...

journal_title：Human molecular genetics

authors： Wu X,Lu M,Yun D,Gao S,Chen S,Hu L,Wu Y,Wang X,Duan E,Cheng CY,Sun F

更新日期：2021-01-12 00:00:00

abstract：:CHARGE syndrome is a multiple congenital anomaly disorder that leads to life-threatening birth defects, such as choanal atresia and cardiac malformations as well as multiple sensory impairments, that affect hearing, vision, olfaction and balance. CHARGE is caused by heterozygous mutations in CHD7, which encodes an ATP...

journal_title：Human molecular genetics

authors： Micucci JA,Layman WS,Hurd EA,Sperry ED,Frank SF,Durham MA,Swiderski DL,Skidmore JM,Scacheri PC,Raphael Y,Martin DM

更新日期：2014-01-15 00:00:00

abstract：:Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease. Symptoms include renal salt wasting, hyperuricemia, gout, hypertension and...

journal_title：Human molecular genetics

authors： Zaucke F,Boehnlein JM,Steffens S,Polishchuk RS,Rampoldi L,Fischer A,Pasch A,Boehm CW,Baasner A,Attanasio M,Hoppe B,Hopfer H,Beck BB,Sayer JA,Hildebrandt F,Wolf MT

更新日期：2010-05-15 00:00:00