Genome-wide association study identifies common and low-frequency variants at the AMH gene locus that strongly predict serum AMH levels in males.

abstract：:Bipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behaviour. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage me...

journal_title：Human molecular genetics

authors： Hou L,Bergen SE,Akula N,Song J,Hultman CM,Landén M,Adli M,Alda M,Ardau R,Arias B,Aubry JM,Backlund L,Badner JA,Barrett TB,Bauer M,Baune BT,Bellivier F,Benabarre A,Bengesser S,Berrettini WH,Bhattacharjee AK,Biern

更新日期：2016-08-01 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：:Dyskeratosis congenita (DC) is a rare genetic syndrome that gives rise to a variety of disorders in affected individuals. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. We found that the most prevalent dyskerin mutation in DC (A353V) did not affect formation of...

journal_title：Human molecular genetics

authors： Trahan C,Martel C,Dragon F

更新日期：2010-03-01 00:00:00

abstract：:The breast cancer gene, BRCA2, is essential for viability, yet patients with Fanconi anemia-D1 subtype are born alive with biallelic mutations in this gene. The hypomorphic nature of the mutations is believed to support viability, but this is not always apparent. One such mutation is IVS7+2T>G, which causes premature ...

journal_title：Human molecular genetics

authors： Thirthagiri E,Klarmann KD,Shukla AK,Southon E,Biswas K,Martin BK,North SL,Magidson V,Burkett S,Haines DC,Noer K,Matthai R,Tessarollo L,Loncarek J,Keller JR,Sharan SK

更新日期：2016-05-15 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：:BCS1L encodes a homolog of the Saccharomyces cerevisiae bcs1 protein, which has a known role in the assembly of Complex III of the mitochondrial respiratory chain. Phenotypes reported in association with pathogenic BCS1L variants include growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis an...

journal_title：Human molecular genetics

authors： Oláhová M,Ceccatelli Berti C,Collier JJ,Alston CL,Jameson E,Jones SA,Edwards N,He L,Chinnery PF,Horvath R,Goffrini P,Taylor RW,Sayer JA

更新日期：2019-11-15 00:00:00

abstract：:The gene encoding protein kinase WNK2 was recently identified to be silenced by promoter hypermethylation in gliomas and meningiomas, suggesting a tumour-suppressor role in these brain tumours. Following experimental depletion in cell lines, WNK2 was further found to control GTP-loading of Rac1, a signalling guanosine...

journal_title：Human molecular genetics

authors： Moniz S,Martinho O,Pinto F,Sousa B,Loureiro C,Oliveira MJ,Moita LF,Honavar M,Pinheiro C,Pires M,Lopes JM,Jones C,Costello JF,Paredes J,Reis RM,Jordan P

更新日期：2013-01-01 00:00:00

abstract：:Expansion of a polyglutamine tract in ataxin-3 (AT3) results in spinocerebellar ataxia type 3/Machado-Joseph disease, one of the nine polyglutamine neurodegenerative diseases. Understanding the normal functions of AT3 as well as its function in the context of expansion of the polyglutamine tract is critical for unders...

journal_title：Human molecular genetics

authors： Zhong X,Pittman RN

更新日期：2006-08-15 00:00:00

abstract：:Recombination was measured across nine intervals in the human beta-globin gene cluster by single-sperm analysis. A recombination fraction of approximately 0.9% was calculated across an approximately 11 kb region using a new method to estimate recombination fractions from single-sperm typing data. No recombination was ...

journal_title：Human molecular genetics

authors： Schneider JA,Peto TE,Boone RA,Boyce AJ,Clegg JB

更新日期：2002-02-01 00:00:00

abstract：:Obesity is a major public health problem with strong genetic determination; however, the genetic factors underlying obesity are largely unknown. In this study, we performed a genome-wide association scan for obesity by examining approximately 500 000 single-nucleotide polymorphisms (SNPs) in a sample of 1000 unrelated...

journal_title：Human molecular genetics

authors： Liu YJ,Liu XG,Wang L,Dina C,Yan H,Liu JF,Levy S,Papasian CJ,Drees BM,Hamilton JJ,Meyre D,Delplanque J,Pei YF,Zhang L,Recker RR,Froguel P,Deng HW

更新日期：2008-06-15 00:00:00

abstract：:Huntington's disease (HD) is a dominantly inherited genetic disease caused by mutant huntingtin (htt) protein with expanded polyglutamine (polyQ) tracts. A neuropathological hallmark of HD is the presence of neuronal inclusions of mutant htt. p62 is an important regulatory protein in selective autophagy, a process by ...

journal_title：Human molecular genetics

authors： Kurosawa M,Matsumoto G,Kino Y,Okuno M,Kurosawa-Yamada M,Washizu C,Taniguchi H,Nakaso K,Yanagawa T,Warabi E,Shimogori T,Sakurai T,Hattori N,Nukina N

更新日期：2015-02-15 00:00:00

abstract：:Parkinson disease (PD) is the second most common neurodegenerative disorder. We studied 754 affected individuals, comprising 425 sibling pairs, to identify PD susceptibility genes. Screening of the parkin gene was performed in a subset of the sample having earlier age of PD onset or a positive LOD score with a marker ...

journal_title：Human molecular genetics

authors： Pankratz N,Nichols WC,Uniacke SK,Halter C,Murrell J,Rudolph A,Shults CW,Conneally PM,Foroud T,Parkinson Study Group.

更新日期：2003-10-15 00:00:00

abstract：:Successful human development is dependent upon a cascade of events following fertilization. Unfortunately, knowledge of these critical events in humans is remarkably incomplete. Although hundreds of thousands of human embryos are cultured yearly at infertility centers worldwide, the vast majority fail to develop in cu...

journal_title：Human molecular genetics

authors： Dobson AT,Raja R,Abeyta MJ,Taylor T,Shen S,Haqq C,Pera RA

更新日期：2004-07-15 00:00:00

abstract：:Multiple mitochondrial DNA deletions are associated with clinically heterogeneous disorders transmitted as mendelian traits. Dominant missense mutations were found in the gene encoding the heart and skeletal muscle-specific isoform of the adenine nucleotide translocator (ANT1) in families with autosomal dominant progr...

journal_title：Human molecular genetics

authors： Palmieri L,Alberio S,Pisano I,Lodi T,Meznaric-Petrusa M,Zidar J,Santoro A,Scarcia P,Fontanesi F,Lamantea E,Ferrero I,Zeviani M

更新日期：2005-10-15 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：:P/Q-type voltage-gated calcium channels are regulated, in part, through the cytoplasmic C-terminus of their alpha1A subunit. Genetic absence or alteration of the C-terminus leads to abnormal channel function and neurological disease. Here, we show that the terminal 60-75 kDa of the endogenous alpha1A C-terminus is cle...

journal_title：Human molecular genetics

authors： Kordasiewicz HB,Thompson RM,Clark HB,Gomez CM

更新日期：2006-05-15 00:00:00

abstract：:Huntington's disease (HD) is an autosomal inherited neurological disease caused by a CAG-repeat expansion in the first exon of huntingtin gene encoding for the huntingtin protein (Htt). In HD, there is an accumulation of intracellular aggregates of mutant Htt that negatively influence cellular functions. The aggregate...

journal_title：Human molecular genetics

authors： Hyrskyluoto A,Bruelle C,Lundh SH,Do HT,Kivinen J,Rappou E,Reijonen S,Waltimo T,Petersén Å,Lindholm D,Korhonen L

更新日期：2014-11-15 00:00:00

abstract：:Huntington's disease (HD) is caused by expansion of a glutamine repeat in huntingtin. Mutant huntingtin contains 36-55 repeats in adult HD patients and >60 repeats in juvenile HD patients. An N-terminal fragment of mutant huntingtin forms aggregates in neuronal nuclei in the brains of transgenic mice and HD patients. ...

journal_title：Human molecular genetics

authors： Li SH,Li XJ

更新日期：1998-05-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeable receptor-channel...

journal_title：Human molecular genetics

authors： Parnell SC,Magenheimer BS,Maser RL,Pavlov TS,Havens MA,Hastings ML,Jackson SF,Ward CJ,Peterson KR,Staruschenko A,Calvet JP

更新日期：2018-10-01 00:00:00

abstract：:Positional cloning has previously resulted in the identification of a gene which is disrupted by deletions in patients with the classic choroideremia (CHM) phenotype. More subtle mutations had been identified in 4 exons of the 3' portion but not elsewhere in the CHM gene. We have now isolated and characterized the com...

journal_title：Human molecular genetics

authors： van Bokhoven H,van den Hurk JA,Bogerd L,Philippe C,Gilgenkrantz S,de Jong P,Ropers HH,Cremers FP

更新日期：1994-07-01 00:00:00

abstract：:Bone mineral density (BMD) is one of the major determinants of risk for osteoporotic fracture. Multiple studies reveal that peak bone mass is under strong genetic influence. One of the major susceptibility loci for peak spine BMD has been mapped to chromosome 1q21-q23 in the Caucasian population. We have previously re...

journal_title：Human molecular genetics

authors： Cheung CL,Chan BY,Chan V,Ikegawa S,Kou I,Ngai H,Smith D,Luk KD,Huang QY,Mori S,Sham PC,Kung AW

更新日期：2009-02-15 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a lethal, muscle degenerative disease causing premature death of affected children. DMD is characterized by mutations in the dystrophin gene that result in a loss of the dystrophin protein. Loss of dystrophin causes an associated reduction in proteins of the dystrophin glycoprotein...

journal_title：Human molecular genetics

authors： Fontelonga TM,Jordan B,Nunes AM,Barraza-Flores P,Bolden N,Wuebbles RD,Griner LM,Hu X,Ferrer M,Marugan J,Southall N,Burkin DJ

更新日期：2019-07-01 00:00:00

abstract：:Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks. A genome-wide search using polymorphic di- and tri-nucleotide repeats was initiated ...

journal_title：Human molecular genetics

authors： von Brederlow B,Hahn AF,Koopman WJ,Ebers GC,Bulman DE

更新日期：1995-02-01 00:00:00

abstract：:The RASopathies are a group of genetic syndromes caused by upregulated RAS signaling. Noonan syndrome (NS), the most common entity among the RASopathies, is characterized mainly by short stature, cardiac anomalies and distinctive facial features. Mutations in multiple RAS-MAPK pathway-related genes have been associate...

journal_title：Human molecular genetics

authors： Motta M,Sagi-Dain L,Krumbach OHF,Hahn A,Peleg A,German A,Lissewski C,Coppola S,Pantaleoni F,Kocherscheid L,Altmüller F,Schanze D,Logeswaran T,Chahrokh-Zadeh S,Munzig A,Nakhaei-Rad S,Cavé H,Ahmadian MR,Tartaglia M,Ze

更新日期：2020-07-21 00:00:00

abstract：:Sphingosine-1-phosphate (S1P) is a lipid-signaling molecule produced by sphingosine kinase in response to a wide number of stimuli. By acting through a family of widely expressed G protein-coupled receptors, S1P regulates diverse physiological processes. Here we examined the role of S1P signaling in neurodegeneration ...

journal_title：Human molecular genetics

authors： Wu YP,Mizugishi K,Bektas M,Sandhoff R,Proia RL

更新日期：2008-08-01 00:00:00

abstract：:Potocki-Lupski syndrome (PTLS; MIM #610883), characterized by neurobehavioral abnormalities, intellectual disability and congenital anomalies, is caused by a 3.7-Mb duplication in 17p11.2. Neurobehavioral studies determined that ∼70-90% of PTLS subjects tested positive for autism or autism spectrum disorder (ASD). We ...

journal_title：Human molecular genetics

authors： Lacaria M,Spencer C,Gu W,Paylor R,Lupski JR

更新日期：2012-07-15 00:00:00

abstract：:Mutations at a single locus, PKHD1, are responsible for causing human autosomal recessive polycystic kidney disease (ARPKD). Recent studies suggest that the cystic disease might result from defects in planar cell polarity, but how the 4074 amino acid ciliary protein encoded by the longest open reading frame of this tr...

journal_title：Human molecular genetics

authors： Kaimori JY,Nagasawa Y,Menezes LF,Garcia-Gonzalez MA,Deng J,Imai E,Onuchic LF,Guay-Woodford LM,Germino GG

更新日期：2007-04-15 00:00:00

abstract：:Huntington's disease (HD) is caused by the expansion mutation above a length threshold of a polyglutamine (polyQ) stretch in the huntingtin (Htt) protein. Mutant Htt (mHtt) pathogenicity is proposed to rely on its malfunction and propensity to misfold and aggregate. Htt has scaffolding properties and has been reported...

journal_title：Human molecular genetics

authors： Davranche A,Aviolat H,Zeder-Lutz G,Busso D,Altschuh D,Trottier Y,Klein FA

更新日期：2011-07-15 00:00:00

abstract：:Uniparental disomy (UPD) is defined as the inheritance of both homologs of a given genomic region from only one parent. The majority of UPD includes an entire chromosome. However, the extent of UPD is sometimes limited to a subchromosomal region (segmental UPD). Mosaic paternal UPD (pUPD) of chromosome 11 is found in ...

journal_title：Human molecular genetics

authors： Ohtsuka Y,Higashimoto K,Oka T,Yatsuki H,Jozaki K,Maeda T,Kawahara K,Hamasaki Y,Matsuo M,Nishioka K,Joh K,Mukai T,Soejima H

更新日期：2016-04-01 00:00:00