IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

abstract：:Beside the well-known polyglutamine expansions involved in several neurodegenerative disorders, convergent recent findings pointed to the expansion of polyalanine stretches as a disease mechanism in congenital malformations, skeletal dysplasia and nervous system anomalies. Polyalanine stretches have been predicted in ...

journal_title：Human molecular genetics

authors： Amiel J,Trochet D,Clément-Ziza M,Munnich A,Lyonnet S

更新日期：2004-10-01 00:00:00

abstract：:Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNA...

journal_title：Human molecular genetics

authors： Haer-Wigman L,Newman H,Leibu R,Bax NM,Baris HN,Rizel L,Banin E,Massarweh A,Roosing S,Lefeber DJ,Zonneveld-Vrieling MN,Isakov O,Shomron N,Sharon D,Den Hollander AI,Hoyng CB,Cremers FP,Ben-Yosef T

更新日期：2015-07-01 00:00:00

abstract：:The transcription factor SOX10 is mutated in the human neurocristopathy Waardenburg-Shah syndrome (WS4), which is characterized by enteric aganglionosis and pigmentation defects. SOX10 directly regulates genes expressed in neural crest lineages, including the enteric ganglia and melanocytes. Although some SOX10 target...

journal_title：Human molecular genetics

authors： Antonellis A,Bennett WR,Menheniott TR,Prasad AB,Lee-Lin SQ,NISC Comparative Sequencing Program.,Green ED,Paisley D,Kelsh RN,Pavan WJ,Ward A

更新日期：2006-01-15 00:00:00

abstract：:Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring trios from the Norwegian Mother, Father and Child Cohort Study to optimize runs of homozygosity (RO...

journal_title：Human molecular genetics

authors： Sole-Navais P,Bacelis J,Helgeland Ø,Modzelewska D,Vaudel M,Flatley C,Andreassen O,Njølstad PR,Muglia LJ,Johansson S,Zhang G,Jacobsson B

更新日期：2020-12-08 00:00:00

abstract：:The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition. A-T carriers were reported to be moderately cancer-prone. A wide variety of A-T mutations, most of which are unique to single families, wer...

journal_title：Human molecular genetics

authors： Gilad S,Bar-Shira A,Harnik R,Shkedy D,Ziv Y,Khosravi R,Brown K,Vanagaite L,Xu G,Frydman M,Lavin MF,Hill D,Tagle DA,Shiloh Y

更新日期：1996-12-01 00:00:00

abstract：:Neurofibromas are one of the most characteristic features of neurofibromatosis type 1 (NF1), an inherited autosomal-dominant neurogenetic disorder affecting 1 in 3500 individuals worldwide. These benign tumors mainly consist of Schwann cells (SCs) and fibroblasts. Recent evidence demonstrates that somatic mutations at...

journal_title：Human molecular genetics

authors： Serra E,Rosenbaum T,Winner U,Aledo R,Ars E,Estivill X,Lenard HG,Lázaro C

更新日期：2000-12-12 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：: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：: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：:Determination of variant pathogenicity represents a major challenge in the era of high-throughput sequencing. Erroneous categorization may result if variants affect genes that are in fact dispensable. We demonstrate that this also applies to rare, apparently unambiguous truncating mutations of an established disease g...

journal_title：Human molecular genetics

authors： Elsayed SM,Phillips JB,Heller R,Thoenes M,Elsobky E,Nürnberg G,Nürnberg P,Seland S,Ebermann I,Altmüller J,Thiele H,Toliat M,Körber F,Hu XJ,Wu YD,Zaki MS,Abdel-Salam G,Gleeson J,Boltshauser E,Westerfield M,Bolz HJ

更新日期：2015-05-01 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：:Sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array. Homozygosity for the common null polymorphism (R577X) in ACTN3 results in the absence of fast fiber-specific α-actinin-3...

journal_title：Human molecular genetics

authors： Seto JT,Lek M,Quinlan KG,Houweling PJ,Zheng XF,Garton F,MacArthur DG,Raftery JM,Garvey SM,Hauser MA,Yang N,Head SI,North KN

更新日期：2011-08-01 00:00:00

abstract：:Human gene expression traits have been shown to be dependent on gender, age and time of day in blood and other tissues. However, other factors that may impact gene expression have not been systematically explored. For example, in studies linking blood gene expression to obesity related traits, whether the fasted or fe...

journal_title：Human molecular genetics

authors： Leonardson AS,Zhu J,Chen Y,Wang K,Lamb JR,Reitman M,Emilsson V,Schadt EE

更新日期：2010-01-01 00:00:00

abstract：:Epigenetic differences are a common feature of many diseases, including cancer, and disease-associated changes have even been detected in bodily fluids. DNA modification studies in circulating DNA (cirDNA) may lead to the development of specific non-invasive biomarkers. To test this hypothesis, we investigated cirDNA ...

journal_title：Human molecular genetics

authors： Cortese R,Kwan A,Lalonde E,Bryzgunova O,Bondar A,Wu Y,Gordevicius J,Park M,Oh G,Kaminsky Z,Tverkuviene J,Laurinavicius A,Jankevicius F,Sendorek DH,Haider S,Wang SC,Jarmalaite S,Laktionov P,Boutros PC,Petronis A

更新日期：2012-08-15 00:00:00

abstract：:Huntington's disease (HD) is caused by a pathological expansion of a CAG repeat in the first exon of the gene coding for huntingtin, resulting in an abnormally long polyglutamine stretch. Despite its widespread expression, mutant huntingtin leads to selective neuronal loss in the striatum and cortex. Here we report th...

journal_title：Human molecular genetics

authors： Modregger J,DiProspero NA,Charles V,Tagle DA,Plomann M

更新日期：2002-10-01 00:00:00

abstract：:The human genome is often portrayed as consisting of three sequence types, each distinguished by their mode of evolution. Purifying selection is estimated to act on 2.5-5.0% of the genome, whereas virtually all remaining sequence is considered to have evolved neutrally and to be devoid of functionality. The third mode...

journal_title：Human molecular genetics

authors： Ponting CP,Lunter G

更新日期：2006-10-15 00:00:00

abstract：:A functional genetic screen using loss-of-function and gain-of-function alleles was performed to identify modifiers of tau-induced neurotoxicity using the 2N/4R (full-length) isoform of wild-type human tau expressed in the fly retina. We previously reported eye pigment mutations, which create dysfunctional lysosomes, ...

journal_title：Human molecular genetics

authors： Ambegaokar SS,Jackson GR

更新日期：2011-12-15 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：:Mutations in gigaxonin were identified in giant axonal neuropathy (GAN), an autosomal recessive disorder. To understand how disruption of gigaxonin's function leads to neurodegeneration, we ablated the gene expression in mice using traditional gene targeting approach. Progressive neurological phenotypes and pathologic...

journal_title：Human molecular genetics

authors： Ding J,Allen E,Wang W,Valle A,Wu C,Nardine T,Cui B,Yi J,Taylor A,Jeon NL,Chu S,So Y,Vogel H,Tolwani R,Mobley W,Yang Y

更新日期：2006-05-01 00:00:00

abstract：:Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodyspl...

journal_title：Human molecular genetics

authors： Duchatelet S,Ostergaard E,Cortes D,Lemainque A,Julier C

更新日期：2005-01-01 00:00:00

abstract：:Extracellular deposition of amyloid-beta (Aβ) peptide, a metabolite of sequential cleavage of amyloid precursor protein (APP), is a critical step in the pathogenesis of Alzheimer's disease (AD). While death-associated protein kinase 1 (DAPK1) is highly expressed in AD brains and its genetic variants are linked to AD r...

journal_title：Human molecular genetics

authors： Kim BM,You MH,Chen CH,Suh J,Tanzi RE,Ho Lee T

更新日期：2016-06-15 00:00:00

abstract：:NPHP4 mutations cause nephronophthisis, an autosomal recessive cystic kidney disease associated with renal fibrosis and kidney failure. The NPHP4 gene product nephrocystin-4 interacts with other nephrocystins, cytoskeletal and ciliary proteins; however, the molecular and cellular functions of nephrocystin-4 have remai...

journal_title：Human molecular genetics

authors： Slanchev K,Pütz M,Schmitt A,Kramer-Zucker A,Walz G

更新日期：2011-08-15 00:00:00

abstract：:Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 def...

journal_title：Human molecular genetics

authors： Yu AK,Datta S,McMackin MZ,Cortopassi GA

更新日期：2017-12-15 00:00:00

abstract：:Female aging entails a decline in fertility in mammals, manifested by reduced oocyte reserves and poor oocyte quality accompanied by chromosomal anomalies and reduced litter size. In addition to compromised genetic integrity, recent studies suggest that epigenetic mechanisms may be altered in aging oocytes, with age a...

journal_title：Human molecular genetics

authors： Lopes FL,Fortier AL,Darricarrère N,Chan D,Arnold DR,Trasler JM

更新日期：2009-06-01 00:00:00

abstract：:Despite the clinical importance of human aneuploidy, we know little of the causes of mammalian non-disjunction. In part, this reflects the fact that, unlike lower organisms, segregation 'impaired' chromosomes are virtually non-existent in mammals. To address this issue, we have studied the mouse Y chromosome on the BA...

journal_title：Human molecular genetics

authors： Bean CJ,Hunt PA,Millie EA,Hassold TJ

更新日期：2001-04-15 00:00:00

abstract：:Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis pigmentosa, a form of hereditary blindness. By using different fragments of this protein as baits to screen cDNA libraries of human and bovine retinas, we defined a yeast two-hybrid-based FAM161A i...

journal_title：Human molecular genetics

authors： Di Gioia SA,Farinelli P,Letteboer SJ,Arsenijevic Y,Sharon D,Roepman R,Rivolta C

更新日期：2015-06-15 00:00:00

abstract：:Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. Previous in vitro studies have shown that seipinopathy-linked m...

journal_title：Human molecular genetics

authors： Yagi T,Ito D,Nihei Y,Ishihara T,Suzuki N

更新日期：2011-10-01 00:00:00

abstract：:The chromosome region 17p13.3 is thought to encode a tumour suppressor gene involved in sporadic breast cancer and other malignancies. Physical ordering of markers has been carried out by a series of multicolour fluorescent in situ hybridisation (FISH) experiments, using isolated yeast artificial chromosomes (YACs) an...

journal_title：Human molecular genetics

authors： Stack M,Jones D,White G,Liscia DS,Venesio T,Casey G,Crichton D,Varley J,Mitchell E,Heighway J

更新日期：1995-11-01 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：:Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development an...

journal_title：Human molecular genetics

authors： Cao S,Smith LL,Padilla-Lopez SR,Guida BS,Blume E,Shi J,Morton SU,Brownstein CA,Beggs AH,Kruer MC,Agrawal PB

更新日期：2017-09-15 00:00:00