Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F.

abstract：:Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. SMA is caused by loss of functional survival motor neuron 1 (SMN1), resulting in death of spinal motor neurons. Current therapeutic research focuses on modulating the expression of a partially functioning copy gene, SMN2, which is reta...

journal_title：Human molecular genetics

authors： Rose FF Jr,Mattis VB,Rindt H,Lorson CL

更新日期：2009-03-15 00:00:00

abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder with no efficient treatment that is caused in the majority of cases by mutations in the gene methyl-CpG binding-protein 2 (MECP2). RTT becomes manifest after a period of apparently normal development and causes growth deceleration, severe psychomotor impairment and ...

journal_title：Human molecular genetics

authors： Ricciardi S,Boggio EM,Grosso S,Lonetti G,Forlani G,Stefanelli G,Calcagno E,Morello N,Landsberger N,Biffo S,Pizzorusso T,Giustetto M,Broccoli V

更新日期：2011-03-15 00:00:00

abstract：:Mutations in the parkin gene, encoding an E3 ubiquitin-protein ligase, are a frequent cause of autosomal recessive parkinsonism and are also involved in sporadic Parkinson's disease. Loss of Parkin function is thought to compromise the polyubiquitylation and proteasomal degradation of specific substrates, leading to t...

journal_title：Human molecular genetics

authors： Hampe C,Ardila-Osorio H,Fournier M,Brice A,Corti O

更新日期：2006-07-01 00:00:00

abstract：:Although studies over the last decades have firmly connected a number of genes and molecular pathways to aging, the aging process as a whole still remains poorly understood. To gain novel insights into the mechanisms underlying aging, instead of considering aging genes individually, we studied their characteristics at...

journal_title：Human molecular genetics

authors： Zhang Q,Nogales-Cadenas R,Lin JR,Zhang W,Cai Y,Vijg J,Zhang ZD

更新日期：2016-07-15 00:00:00

abstract：:Mutations in the WNK1 gene cause Gordon's syndrome, a rare Mendelian form of hypertension. We assessed whether common WNK1 variants might also contribute to essential hypertension (EH), a multifactorial disorder affecting > 25% of the adult population worldwide. A panel of 19 single nucleotide polymorphisms (SNPs) spa...

journal_title：Human molecular genetics

authors： Newhouse SJ,Wallace C,Dobson R,Mein C,Pembroke J,Farrall M,Clayton D,Brown M,Samani N,Dominiczak A,Connell JM,Webster J,Lathrop GM,Caulfield M,Munroe PB

更新日期：2005-07-01 00:00:00

abstract：:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disease that has been linked to deletions within a tandem array of 3.2 kb repeats adjacent to the telomere of 4q. These repeats are also present in other locations in the human genome, including the short arms of all the acrocentric c...

journal_title：Human molecular genetics

authors： Winokur ST,Bengtsson U,Vargas JC,Wasmuth JJ,Altherr MR,Weiffenbach B,Jacobsen SJ

更新日期：1996-10-01 00:00:00

abstract：:Nicotine is thought to act on brain monoamine systems that normally mediate diverse motivational behaviors. How monoamine-related genes contribute to behavioral traits (e.g. responses to novel stimuli) comorbid with the susceptibility to nicotine addiction is still poorly understood. We examined the impact of constitu...

journal_title：Human molecular genetics

authors： Agatsuma S,Lee M,Zhu H,Chen K,Shih JC,Seif I,Hiroi N

更新日期：2006-09-15 00:00:00

abstract：:A main strategy for lowering plasma low-density lipoprotein (LDL) cholesterol levels is to increase the number of cell-surface LDL receptors (LDLRs). This can be achieved by increasing the synthesis or preventing the degradation of the LDLR. One mechanism by which an LDLR becomes non-functional is enzymatic cleavage w...

journal_title：Human molecular genetics

authors： Strøm TB,Bjune K,Costa LTD,Leren TP

更新日期：2019-11-15 00:00:00

abstract：:Mutation in a growing spectrum of genes is known to either cause or contribute to primary or secondary microcephaly. In primary microcephaly the genetic determinants frequently involve mutations that contribute to or modulate the microtubule cytoskeleton by causing perturbations of neuronal proliferation and migration...

journal_title：Human molecular genetics

authors： Edvardson S,Tian G,Cullen H,Vanyai H,Ngo L,Bhat S,Aran A,Daana M,Da'amseh N,Abu-Libdeh B,Cowan NJ,Heng JI,Elpeleg O

更新日期：2016-11-01 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：:Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene. To test this theory, we performed a functional analysis of two missense mutations in ...

journal_title：Human molecular genetics

authors： Tang HK,Chao LY,Saunders GF

更新日期：1997-03-01 00:00:00

abstract：:Mutations in mitochondrial DNA (mtDNA) are associated with a broad spectrum of clinical disorders. The segregation pattern of pathogenic mtDNAs is an important determinant of both the onset and the severity of the disease phenotype, but the mechanisms controlling mtDNA segregation remain poorly understood. To investig...

journal_title：Human molecular genetics

authors： Battersby BJ,Redpath ME,Shoubridge EA

更新日期：2005-09-01 00:00:00

abstract：:A single-base substitution in the coding region of the androgen receptor (AR) gene caused complete androgen insensitivity in a patient with 46,XY karyotype. The mutation was a T-to-G transition in exon 6 and changed the codon 807 from ATG (methionine) to AGG (arginine) in the hormone-binding domain of the protein. The...

journal_title：Human molecular genetics

authors： Adeyemo O,Kallio PJ,Palvimo JJ,Kontula K,Jänne OA

更新日期：1993-11-01 00:00:00

abstract：:Serum total immunoglobulin E (IgE) is a critical intermediate phenotype of allergic diseases. Although total IgE exhibits sexual dimorphism in humans (with males demonstrating higher IgE than females), the molecular basis of this difference is unknown. A genome-wide scan of 380 short-tandem repeat (STR) markers was pe...

journal_title：Human molecular genetics

authors： Raby BA,Soto-Quiros ME,Avila L,Lake SL,Murphy A,Liang C,Fournier E,Spesny M,Sylvia JS,Verner A,Hudson TJ,Klanderman BJ,Freimer NB,Silverman EK,Celedón JC

更新日期：2007-02-01 00:00:00

abstract：:Many genetic mutations have been identified as monogenic causes of nephrotic syndrome (NS), but important knowledge gaps exist in the roles of these genes in kidney cell biology and renal diseases. More animal models are needed to assess the functions of these genes in vivo, and to determine how they cause NS in a tim...

journal_title：Human molecular genetics

authors： Fu Y,Zhu JY,Richman A,Zhao Z,Zhang F,Ray PE,Han Z

更新日期：2017-02-15 00:00:00

abstract：:The CFTR gene, in which more than 300 mutations have been described, displays a spectrum of mutations which varies according to ethnic and geographic origin of patients. In this paper we report an exhaustive study of the 27 exons and exon/intron boundaries of a sample of 35 CF patients from Bulgaria which is situated ...

journal_title：Human molecular genetics

authors： Savov A,Mercier B,Kalaydjieva L,Férec C

更新日期：1994-01-01 00:00:00

abstract：:α-Synuclein and mutant huntingtin are the major constituents of the intracellular aggregates that characterize the pathology of Parkinson's disease (PD) and Huntington's disease (HD), respectively. α-Synuclein is likely to be a major contributor to PD, since overexpression of this protein resulting from genetic tripli...

journal_title：Human molecular genetics

authors： Corrochano S,Renna M,Carter S,Chrobot N,Kent R,Stewart M,Cooper J,Brown SD,Rubinsztein DC,Acevedo-Arozena A

更新日期：2012-02-01 00:00:00

abstract：:Protein-protein interactions are fundamental to all biological processes, and a comprehensive determination of all protein-protein interactions that can take place in an organism provides a framework for understanding biology as an integrated system. The availability of genome-scale sets of cloned open reading frames ...

journal_title：Human molecular genetics

authors： Cusick ME,Klitgord N,Vidal M,Hill DE

更新日期：2005-10-15 00:00:00

abstract：:Williams syndrome (WS) is a neurodevelopmental disorder caused by a 1.5-1.8 Mbp deletion on chromosome 7q11.23, affecting the copy number of 26-28 genes. Phenotypes of WS include cardiovascular problems, craniofacial dysmorphology, deficits in visual-spatial cognition and a characteristic hypersocial personality. Ther...

journal_title：Human molecular genetics

authors： Kopp N,McCullough K,Maloney SE,Dougherty JD

更新日期：2019-10-15 00:00:00

abstract：:Niemann-Pick type C (NPC) disease is a fatal recessively inherited lysosomal cholesterol-sphingolipidosis. Mutations in the NPC1 gene cause approximately 95% of the cases, the rest being caused by NPC2 mutations. Here the molecular basis of a severe infantile form of the disease was dissected. The level of NPC1 protei...

journal_title：Human molecular genetics

authors： Blom TS,Linder MD,Snow K,Pihko H,Hess MW,Jokitalo E,Veckman V,Syvänen AC,Ikonen E

更新日期：2003-02-01 00:00:00

abstract：:Prader-Willi syndrome (PWS) is an imprinted genetic obesity disorder characterized by abnormalities of growth and metabolism. Multiple mouse models with deficiency of one or more PWS candidate genes have partially correlated individual genes with aspects of the PWS phenotype, although the genetic origin of defects in ...

journal_title：Human molecular genetics

authors： Bischof JM,Stewart CL,Wevrick R

更新日期：2007-11-15 00:00:00

abstract：:The gene which is defective in Duchenne muscular dystrophy (DMD) is the largest known gene. The product of the gene in muscle, dystrophin, is a 427 kDa protein. The same gene encodes at least six additional products: two non-muscle dystrophin isoforms transcribed from promoters located in the 5'-end region of the gene...

journal_title：Human molecular genetics

authors： Wang J,Pansky A,Venuti JM,Yaffe D,Nudel U

更新日期：1998-04-01 00:00:00

abstract：:The transient receptor potential vanilloid 1 (TRPV1) protein is a pain receptor that elicits a hot sensation when an organism eats the capsaicin of red chili peppers. This calcium (Ca2+)-permeable cation channel is mostly expressed in the peripheral nervous system sensory neurons but also in the central nervous system...

journal_title：Human molecular genetics

authors： Kim J,Lee S,Kim J,Ham S,Park JHY,Han S,Jung YK,Shim I,Han JS,Lee KW,Kim J

更新日期：2020-01-15 00:00:00

abstract：:We have used inbred and congenic rat strains in F(2) segregation studies to discover epistasis in a polygenic model of hypertension. Previously, we have found evidence that the presence of a blood pressure quantitative trait locus (QTL) on chromosome 1 is conditional upon the allele status of chromosome 10. To prove t...

journal_title：Human molecular genetics

authors： Monti J,Plehm R,Schulz H,Ganten D,Kreutz R,Hübner N

更新日期：2003-02-15 00:00:00

abstract：:Metabolic control of phenylalanine concentrations in body fluids is essential for cognitive development and executive function. The hepatic phenylalanine hydroxylating system is regulated by the ratio of l-phenylalanine, which is substrate of phenylalanine hydroxylase (PAH), to the PAH cofactor tetrahydrobiopterin (BH...

journal_title：Human molecular genetics

authors： Eichinger A,Danecka MK,Möglich T,Borsch J,Woidy M,Büttner L,Muntau AC,Gersting SW

更新日期：2018-05-15 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency. Main X-ALD phenotypes are: (i) an adult adrenomyeloneuropathy (AMN) with axonopathy in spinal cords, (ii) cerebral AMN with brain demyelination (cAMN) an...

journal_title：Human molecular genetics

authors： Schlüter A,Espinosa L,Fourcade S,Galino J,López E,Ilieva E,Morató L,Asheuer M,Cook T,McLaren A,Reid J,Kelly F,Bates S,Aubourg P,Galea E,Pujol A

更新日期：2012-03-01 00:00:00

abstract：:Circletail is one of only two mouse mutants that exhibit the most severe form of neural tube defect (NTD), termed craniorachischisis. In this disorder, almost the entire brain and spinal cord is affected, owing to a failure to initiate neural tube closure. Craniorachischisis is a significant cause of lethality in huma...

journal_title：Human molecular genetics

authors： Murdoch JN,Henderson DJ,Doudney K,Gaston-Massuet C,Phillips HM,Paternotte C,Arkell R,Stanier P,Copp AJ

更新日期：2003-01-15 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：:The oculo-auriculo-vertebral spectrum (OAVS) (OMIM % 164210) is a common developmental disorder characterized by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a pat...

journal_title：Human molecular genetics

authors： Fischer S,Lüdecke HJ,Wieczorek D,Böhringer S,Gillessen-Kaesbach G,Horsthemke B

更新日期：2006-02-15 00:00:00

abstract：:Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the prese...

journal_title：Human molecular genetics

authors： Casademont J,Barrientos A,Cardellach F,Rötig A,Grau JM,Montoya J,Beltrán B,Cervantes F,Rozman C,Estivill X

更新日期：1994-11-01 00:00:00