Mouse Fkbp8 activity is required to inhibit cell death and establish dorso-ventral patterning in the posterior neural tube.

abstract：:Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensit...

journal_title：Human molecular genetics

authors： Gloyn AL,Reimann F,Girard C,Edghill EL,Proks P,Pearson ER,Temple IK,Mackay DJ,Shield JP,Freedenberg D,Noyes K,Ellard S,Ashcroft FM,Gribble FM,Hattersley AT

更新日期：2005-04-01 00:00:00

abstract：:Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading to the blinding retinal degeneration in USH is uncertain. There is evidence for involvement of the photoreceptor cilium, photoreceptor synapse, the adjacent retinal pigment epithelium (RPE)...

journal_title：Human molecular genetics

authors： Jacobson SG,Cideciyan AV,Aleman TS,Sumaroka A,Roman AJ,Gardner LM,Prosser HM,Mishra M,Bech-Hansen NT,Herrera W,Schwartz SB,Liu XZ,Kimberling WJ,Steel KP,Williams DS

更新日期：2008-08-01 00:00:00

abstract：:The infantile neuronal ceroid lipofuscinosis (INCL), a rare (one in 100 000 births) but one of the most lethal inherited neurodegenerative storage disorders of childhood, is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 cleaves thioester linkages in s-acylated (palmitoylate...

journal_title：Human molecular genetics

authors： Kim SJ,Zhang Z,Lee YC,Mukherjee AB

更新日期：2006-05-15 00:00:00

abstract：:The identification of multiple signals at individual loci could explain additional phenotypic variance ('missing heritability') of common traits, and help identify causal genes. We examined gene expression levels as a model trait because of the large number of strong genetic effects acting in cis. Using expression pro...

journal_title：Human molecular genetics

authors： Wood AR,Hernandez DG,Nalls MA,Yaghootkar H,Gibbs JR,Harries LW,Chong S,Moore M,Weedon MN,Guralnik JM,Bandinelli S,Murray A,Ferrucci L,Singleton AB,Melzer D,Frayling TM

更新日期：2011-10-15 00:00:00

abstract：:Mitochondria contain a dedicated translation system, which is responsible for the intramitochondrial synthesis of 13 mitochondrial DNA (mtDNA)-encoded polypeptides essential for the biogenesis of oxidative phosphorylation (OXPHOS) complexes I and III-V. Mutations in nuclear genes encoding factors involved in mitochond...

journal_title：Human molecular genetics

authors： Pulman J,Ruzzenente B,Bianchi L,Rio M,Boddaert N,Munnich A,Rötig A,Metodiev MD

更新日期：2019-05-01 00:00:00

abstract：:Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone diseas...

journal_title：Human molecular genetics

authors： Cao F,Lu L,Abrams SA,Hawthorne KM,Tam A,Jin W,Dawson B,Shypailo R,Liu H,Lee B,Nagamani SCS,Wang LL

更新日期：2017-08-15 00:00:00

abstract：:Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases. Whereas PAX9 haploinsufficiency has been suggested as the underlying genetic mechanism, it is not known how this...

journal_title：Human molecular genetics

authors： Kist R,Watson M,Wang X,Cairns P,Miles C,Reid DJ,Peters H

更新日期：2005-12-01 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：:Mutations in ATP13A2 (PARK9) cause Kufor-Rakeb syndrome (KRS) characterized by juvenile-onset parkinsonism, pyramidal signs and dementia. PARK9 belongs to type 5 P-type ATPase with its putative function as a cation transporter. Loss of PARK9 leads to lysosomal dysfunction and subsequent α-synuclein (α-Syn) accumulatio...

journal_title：Human molecular genetics

authors： Tsunemi T,Krainc D

更新日期：2014-06-01 00:00:00

abstract：:Type V collagen is a constituent of type I collagen-rich fibrils in many connective tissues and is a regulator of fibril diameter. In tissues, type V collagen is a heterotrimer with the molecular structure: alpha 1(V)2 alpha 2(V) or alpha 1(V) alpha 2(V) alpha 3(V). We report that genomic polymorphisms at the pro alph...

journal_title：Human molecular genetics

authors： Wenstrup RJ,Langland GT,Willing MC,D'Souza VN,Cole WG

更新日期：1996-11-01 00:00:00

abstract：:DiGeorge syndrome, and more widely the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. A critical region of 500 kb has been delimited within which maps the breakpoint of a balanced translocation associated with mild CATCH 22 phenotypes. We report the isolation from this critical re...

journal_title：Human molecular genetics

authors： Demczuk S,Thomas G,Aurias A

更新日期：1996-05-01 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：:Human single gene disorders that affect the nervous system provide a host of natural mutations that can be deployed in the quest to understand its development and function. A paradigm for this approach is the study of disorders caused by mutations in the gene for the neural cell recognition molecule L1. L1 is the foun...

journal_title：Human molecular genetics

authors： Kenwrick S,Watkins A,De Angelis E

更新日期：2000-04-12 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：:Human leukocyte antigen (HLA)-E is a non-classical major histocompatibility complex class I (Ib) molecule, which plays an important role in immunosuppression. In this study, we investigated the immunomodulating effect of HLA-E in a xenogeneic system, using human placental artery-derived endothelial (hPAE) cells expres...

journal_title：Human molecular genetics

authors： Cui CH,Miyoshi S,Tsuji H,Makino H,Kanzaki S,Kami D,Terai M,Suzuki H,Umezawa A

更新日期：2011-01-15 00:00:00

abstract：:Ether lipids (ELs), particularly plasmalogens, are essential constituents of the mammalian central nervous system. The physiological role of ELs, in vivo, however is still enigmatic. In the present study, we characterized a mouse model carrying a targeted deletion of the peroxisomal dihydroxyacetonephosphate acyltrans...

journal_title：Human molecular genetics

authors： Teigler A,Komljenovic D,Draguhn A,Gorgas K,Just WW

更新日期：2009-06-01 00:00:00

abstract：:Schizophrenia is a severely debilitating psychiatric disease that is hypothesized to have its roots in neurodevelopment. Although the precise neuropathology underlying schizophrenia has remained elusive, there are consistent reports of abnormalities in several brain areas. Chief among these is the hippocampus, an area...

journal_title：Human molecular genetics

authors： Meyer KD,Morris JA

更新日期：2009-09-01 00:00:00

abstract：:Multicentric chromosomes are often found in tumor cells and certain cell lines. How they are generated is not fully understood, though their stability suggests that they are non-functional during chromosome segregation. Growing evidence has implicated microtubule motor proteins in attachment of chromosomes to the mito...

journal_title：Human molecular genetics

authors： Faulkner NE,Vig B,Echeverri CJ,Wordeman L,Vallee RB

更新日期：1998-04-01 00:00:00

abstract：:TNNI3K expression worsens disease progression in several mouse heart pathology models. TNNI3K expression also reduces the number of diploid cardiomyocytes, which may be detrimental to adult heart regeneration. However, the gene is evolutionarily conserved, suggesting a beneficial function that has remained obscure. He...

journal_title：Human molecular genetics

authors： Gan P,Baicu C,Watanabe H,Wang K,Tao G,Judge DP,Zile MR,Makita T,Mukherjee R,Sucov HM

更新日期：2021-01-06 00:00:00

abstract：:Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13. Affected individuals exhibit neonatal hypotonia, developmental delay and childhood-onset obesity. Necdin, a protein implicated in the terminal differentiation of neurons, is the only PWS candidate gene to reduce...

journal_title：Human molecular genetics

authors： Lee S,Kozlov S,Hernandez L,Chamberlain SJ,Brannan CI,Stewart CL,Wevrick R

更新日期：2000-07-22 00:00:00

abstract：:Germ-line mutations of the TSC2 tumour suppressor gene have been identified in humans with tuberous sclerosis and in the Eker rat. Tuberin, the human TSC2 gene product, has a small region of homology with rap1GAP and stimulates rap1 GTPase activity in vitro, suggesting that one of its cellular roles is to function as ...

journal_title：Human molecular genetics

authors： Maheshwar MM,Sandford R,Nellist M,Cheadle JP,Sgotto B,Vaudin M,Sampson JR

更新日期：1996-01-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are the two common neurodegenerative diseases that have been associated with the GGGGCC·GGCCCC repeat RNA expansion in a noncoding region of C9orf72. It has been previously reported that unconventional repeat-associated non-ATG (RAN) translation of ...

journal_title：Human molecular genetics

authors： Tao Z,Wang H,Xia Q,Li K,Li K,Jiang X,Xu G,Wang G,Ying Z

更新日期：2015-05-01 00:00:00

abstract：:We previously showed that disruptive complex I mutations in mitochondrial DNA are the main genetic hallmark of oncocytic tumors of the thyroid and kidney. We here report a high frequency of homoplasmic disruptive mutations in a large panel of oncocytic pituitary and head-and-neck tumors. The presence of such mutations...

journal_title：Human molecular genetics

authors： Porcelli AM,Ghelli A,Ceccarelli C,Lang M,Cenacchi G,Capristo M,Pennisi LF,Morra I,Ciccarelli E,Melcarne A,Bartoletti-Stella A,Salfi N,Tallini G,Martinuzzi A,Carelli V,Attimonelli M,Rugolo M,Romeo G,Gasparre G

更新日期：2010-03-15 00:00:00

abstract：:The FKHR gene, which contains a forkhead DNA-binding motif, is fused to either PAX3 or PAX7 by the t(2;13) or t(1;13) translocation in alveolar rhabdomyosarcoma,respectively. These tumors express chimeric transcripts encoding the N-terminal portion of either PAX protein fused to the C-terminal portion of FKHR. To unde...

journal_title：Human molecular genetics

authors： Davis RJ,Bennicelli JL,Macina RA,Nycum LM,Biegel JA,Barr FG

更新日期：1995-12-01 00:00:00

abstract：:The clearest example of genomic imprinting in humans comes from studies of the Angelman (AS) and Prader-Willi (PWS) syndromes. Although these are clinically distinct disorders, both typically result from a loss of the same chromosomal region, 15q11-q13. AS usually results from either a maternal deletion of this region...

journal_title：Human molecular genetics

authors： Glenn CC,Nicholls RD,Robinson WP,Saitoh S,Niikawa N,Schinzel A,Horsthemke B,Driscoll DJ

更新日期：1993-09-01 00:00:00

abstract：:Pallister-Hall syndrome (PHS) is a rare disorder caused by mutations in GLI3 that produce a transcriptional repressor (GLI3R). Individuals with PHS present with a variably penetrant variety of urogenital system malformations, including renal aplasia or hypoplasia, hydroureter, hydronephrosis or a common urogenital sin...

journal_title：Human molecular genetics

authors： Blake J,Hu D,Cain JE,Rosenblum ND

更新日期：2016-02-01 00:00:00

abstract：:Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by a polyglutamine-encoding CAG repeat expansion in the ATXN3 gene. This expansion leads to misfolding and aggregation of mutant ataxin-3 (ATXN3) and degeneration of select brain regions. A key unanswered question in SCA3 and other polyglutami...

journal_title：Human molecular genetics

authors： Ramani B,Panwar B,Moore LR,Wang B,Huang R,Guan Y,Paulson HL

更新日期：2017-09-01 00:00:00

abstract：:Familial infantile myasthenia is an autosomal recessive disorder, recently classified as congenital myasthenic syndrome type Ia. Onset of symptoms is at birth to early childhood with significant myasthenic weakness and possible respiratory distress, followed later in life by symptoms of mild to moderate myasthenia. Th...

journal_title：Human molecular genetics

authors： Christodoulou K,Tsingis M,Deymeer F,Serdaroglu P,Ozdemir C,Al-Shehab A,Bairactaris C,Mavromatis I,Mylonas I,Evoli A,Kyriallis K,Middleton LT

更新日期：1997-04-01 00:00:00

abstract：:The HLA class II (DRB1 and DQB1) associations with sarcoidosis have been studied by several groups but often without consistent results. In this paper, we consider the hypothesis that observed inconsistencies relate to distinct, genetically encoded disease phenotypes which differ in prevalence between centres. We ther...

journal_title：Human molecular genetics

authors： Sato H,Woodhead FA,Ahmad T,Grutters JC,Spagnolo P,van den Bosch JM,Maier LA,Newman LS,Nagai S,Izumi T,Wells AU,du Bois RM,Welsh KI

更新日期：2010-10-15 00:00:00

abstract：:Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date...

journal_title：Human molecular genetics

authors： Yu Y,Bhangale TR,Fagerness J,Ripke S,Thorleifsson G,Tan PL,Souied EH,Richardson AJ,Merriam JE,Buitendijk GH,Reynolds R,Raychaudhuri S,Chin KA,Sobrin L,Evangelou E,Lee PH,Lee AY,Leveziel N,Zack DJ,Campochiaro B,Cam

更新日期：2011-09-15 00:00:00