Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.

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：:Craniosynostosis, the abnormal development of the calvarial sutures, occurs as an autosomal dominant trait in many clinically distinct syndromes. We performed linkage analysis of a provisionally novel type of autosomal dominant craniosynostosis in a large three generational family. Linkage was established between the ...

journal_title：Human molecular genetics

authors： Müller U,Warman ML,Mulliken JB,Weber JL

更新日期：1993-02-01 00:00:00

abstract：:Clinical observations and epidemiologic studies suggest that the incidence of head and neck squamous cell carcinoma (HNSCC) correlates with dental hygiene, implying a role for bacteria-induced inflammation in its pathogenesis. Here we begin to explore the pilot hypothesis that specific microbial populations may contri...

journal_title：Human molecular genetics

authors： Bebek G,Bennett KL,Funchain P,Campbell R,Seth R,Scharpf J,Burkey B,Eng C

更新日期：2012-04-01 00:00:00

abstract：:Lipocalins are carrier proteins for hydrophobic molecules in many biological fluids. In the oral sphere (nasal mucus, saliva, tears), they have an environmental biosensor function and are involved in the detection of odours and pheromones. Herein, we report the first identification of human lipocalins involved in odor...

journal_title：Human molecular genetics

authors： Lacazette E,Gachon AM,Pitiot G

更新日期：2000-01-22 00:00:00

abstract：:Lysosomal storage diseases are due to inherited deficiencies in various enzymes involved in basic metabolic processes. As with other genetic diseases, accurate structure data for these enzymatic proteins should help in better understanding the molecular effects of mutations identified in patients with the correspondin...

journal_title：Human molecular genetics

authors： Durand P,Fabrega S,Henrissat B,Mornon JP,Lehn P

更新日期：2000-04-12 00:00:00

abstract：:Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents ...

journal_title：Human molecular genetics

authors： Yang GC,Croaker D,Zhang AL,Manglick P,Cartmill T,Cass D

更新日期：1998-06-01 00:00:00

abstract：:We have studied 21 families with Wilson disease (WND), using restriction fragment length polymorphisms (RFLPs) in the 13q14.3 region, to measure linkage of these markers to the disease locus. In addition to previously described markers, we include linkage data for a newly isolated marker (D13S86) and an established ma...

journal_title：Human molecular genetics

authors： Thomas GR,Roberts EA,Rosales TO,Moroz SP,Lambert MA,Wong LT,Cox DW

更新日期：1993-09-01 00:00:00

abstract：:Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA is mainly characterized by contractures afflicting especially the distal extremities without overt mu...

journal_title：Human molecular genetics

authors： Dieterich K,Quijano-Roy S,Monnier N,Zhou J,Fauré J,Smirnow DA,Carlier R,Laroche C,Marcorelles P,Mercier S,Mégarbané A,Odent S,Romero N,Sternberg D,Marty I,Estournet B,Jouk PS,Melki J,Lunardi J

更新日期：2013-04-15 00:00:00

abstract：:Chronic obstructive pulmonary disease (COPD) is characterized by airway epithelial damage, bronchoconstriction, parenchymal destruction and mucus hypersecretion. Upon activation by a broad range of stimuli, transient receptor potential vanilloid 4 (TRPV4) functions to control airway epithelial cell volume and epitheli...

journal_title：Human molecular genetics

authors： Zhu G,ICGN Investigators.,Gulsvik A,Bakke P,Ghatta S,Anderson W,Lomas DA,Silverman EK,Pillai SG

更新日期：2009-06-01 00:00:00

abstract：:Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities. Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF). MITF plays a critical role in the develop...

journal_title：Human molecular genetics

authors： Yajima I,Sato S,Kimura T,Yasumoto K,Shibahara S,Goding CR,Yamamoto H

更新日期：1999-08-01 00:00:00

abstract：:Recombination, demographic history, drift and selection influence the extent of linkage disequilibrium (LD) in the human genome, but their relative contributions remain unclear. To investigate the effect of meiotic recombination versus population history on LD, three populations with different demographic histories (U...

journal_title：Human molecular genetics

authors： Kauppi L,Sajantila A,Jeffreys AJ

更新日期：2003-01-01 00:00:00

abstract：:MicroRNAs (miRs) are non-coding RNA molecules involved in cancer initiation and progression. Deregulated miR expression has been implicated in cancer; however, there are no studies implicating an miR signature associated with progression in oral squamous cell carcinoma (OSCC). Although OSCC may develop from oral leuko...

journal_title：Human molecular genetics

authors： Cervigne NK,Reis PP,Machado J,Sadikovic B,Bradley G,Galloni NN,Pintilie M,Jurisica I,Perez-Ordonez B,Gilbert R,Gullane P,Irish J,Kamel-Reid S

更新日期：2009-12-15 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：:Genome-wide association studies (GWASs) of renal cell cancer (RCC) have identified four susceptibility loci thus far. To identify an additional RCC common susceptibility locus, we conducted a GWAS and performed a meta-analysis with published GWASs (totalling 2215 cases and 8566 controls of European background) and fol...

journal_title：Human molecular genetics

authors： Henrion M,Frampton M,Scelo G,Purdue M,Ye Y,Broderick P,Ritchie A,Kaplan R,Meade A,McKay J,Johansson M,Lathrop M,Larkin J,Rothman N,Wang Z,Chow WH,Stevens VL,Ryan Diver W,Gapstur SM,Albanes D,Virtamo J,Wu X,Bre

更新日期：2013-02-15 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

abstract：:Mutations in S-phase cyclin A-associated protein in the endoplasmic reticulum (SCAPER) cause a recessively inherited multisystemic disorder whose main features are retinal degeneration and intellectual disability. SCAPER, originally identified as a cell cycle regulator, was also suggested to be a ciliary protein. Beca...

journal_title：Human molecular genetics

authors： Tatour Y,Bar-Joseph H,Shalgi R,Ben-Yosef T

更新日期：2020-08-03 00:00:00

abstract：:Decreases in the ratio of neurotrophic versus neurodegenerative signalling play a critical role in Huntington’s disease (HD) pathogenesis and recent evidence suggests that the p75 neurotrophin receptor (NTR) contributes significantly to disease progression. p75NTR signalling intermediates substantially overlap with th...

journal_title：Human molecular genetics

authors： Simmons DA,Belichenko NP,Ford EC,Semaan S,Monbureau M,Aiyaswamy S,Holman CM,Condon C,Shamloo M,Massa SM,Longo FM

更新日期：2016-11-15 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：: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：:Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene. This encodes the enzyme ATP:cob(I)alamin adenosyltransferase (ATR), which converts reduced cob(I)alamin to an active adenosylcobalamin cofactor. We recently reported the presence of destabilizing pathogenic mutations that retain some resid...

journal_title：Human molecular genetics

authors： Jorge-Finnigan A,Brasil S,Underhaug J,Ruíz-Sala P,Merinero B,Banerjee R,Desviat LR,Ugarte M,Martinez A,Pérez B

更新日期：2013-09-15 00:00:00

abstract：:X-linked spinal and bulbar muscular atrophy (SBMA; Kennedy's disease) is a polyglutamine (polyQ) disease in which the affected males suffer progressive motor neuron degeneration accompanied by signs of androgen insensitivity, such as gynecomastia and reduced fertility. SBMA is caused by CAG repeat expansions in the an...

journal_title：Human molecular genetics

authors： Thomas PS Jr,Fraley GS,Damian V,Woodke LB,Zapata F,Sopher BL,Plymate SR,La Spada AR

更新日期：2006-07-15 00:00:00

abstract：:In the field of muscular dystrophy, advances in understanding the molecular basis of the various disorders in this group have been rapidly translated into readily applicable diagnostic tests, allowing the provision of more accurate prognostic and genetic counselling. The limb-girdle muscular dystrophies (LGMD) have re...

journal_title：Human molecular genetics

authors： Bushby KM

更新日期：1999-01-01 00:00:00

abstract：:The size of the (CAG)n repeat array in the 3' end of the MJD1 gene and the haplotype at a series of microsatellite markers surrounding the MJD1 gene were examined in a large cohort of Japanese and Caucasian subjects affected with Machado-Joseph disease (MJD). Our data provide five novel observations. First, MJD is ass...

journal_title：Human molecular genetics

authors： Takiyama Y,Igarashi S,Rogaeva EA,Endo K,Rogaev EI,Tanaka H,Sherrington R,Sanpei K,Liang Y,Saito M

更新日期：1995-07-01 00:00:00

abstract：:Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterized by many features of premature aging. Most cases of HGPS are due to a heterozygous silent mutation (c.1824C>T; p.Gly608Gly) that enhances the use of an internal 5' splice site (5'SS) in exon 11 of the LMNA pre-mRNA and l...

journal_title：Human molecular genetics

authors： Lopez-Mejia IC,Vautrot V,De Toledo M,Behm-Ansmant I,Bourgeois CF,Navarro CL,Osorio FG,Freije JM,Stévenin J,De Sandre-Giovannoli A,Lopez-Otin C,Lévy N,Branlant C,Tazi J

更新日期：2011-12-01 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：:In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have pursued the analysis of large consanguineous affected families living in geographically isolated areas. Here, we report on the study of a Lebanese family comprising nine members presenting with a...

journal_title：Human molecular genetics

authors： Mustapha M,Weil D,Chardenoux S,Elias S,El-Zir E,Beckmann JS,Loiselet J,Petit C

更新日期：1999-03-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a lethal muscle wasting disorder caused by mutations in the DMD gene that leads to the absence or severe reduction of dystrophin protein in muscle. The mdx mouse, also dystrophin deficient, is the model most widely used to study the pathology and test potential therapies, but the p...

journal_title：Human molecular genetics

authors： Coles CA,Gordon L,Hunt LC,Webster T,Piers AT,Kintakas C,Woodman K,Touslon SL,Smythe GM,White JD,Lamandé SR

更新日期：2020-02-01 00:00:00

abstract：:Understanding mediation is useful for identifying intermediates lying between an exposure and an outcome which, when intervened upon, will block (some or all of) the causal pathway between the exposure and outcome. Mediation approaches used in conventional epidemiology have been adapted to understanding the role of mo...

journal_title：Human molecular genetics

authors： Richmond RC,Hemani G,Tilling K,Davey Smith G,Relton CL

更新日期：2016-10-01 00:00:00

abstract：:ATRX is a chromatin remodeling protein involved in deposition of the histone variant H3.3 at telomeres and pericentromeric heterochromatin. It also influences the expression level of specific genes; however, deposition of H3.3 at transcribed genes is currently thought to occur independently of ATRX. We focused on a se...

journal_title：Human molecular genetics

authors： Levy MA,Kernohan KD,Jiang Y,Bérubé NG

更新日期：2015-04-01 00:00:00

abstract：:Large expansions of hexanucleotide GGGGCC (G4C2) repeats (hundreds to thousands) in the first intron of the chromosome 9 open reading frame 72 (C9orf72) locus are the strongest known genetic factor associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Different hypotheses exist about the...

journal_title：Human molecular genetics

authors： Swaminathan A,Bouffard M,Liao M,Ryan S,Callister JB,Pickering-Brown SM,Armstrong GAB,Drapeau P

更新日期：2018-05-15 00:00:00