LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1.

abstract：:Peripheral sensory perception is established through an elaborate network of specialized neurons that mediate the translation of extraorganismal stimuli through the use of a broad array of receptors and downstream effector molecules. Studies of human genetic disorders, as well as mouse and other animal models, have id...

journal_title：Human molecular genetics

authors： Tan PL,Katsanis N

更新日期：2009-10-15 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：: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：:Prevalence of coronary heart disease (CHD), of type 2 diabetes (T2DM) and of the metabolic syndrome are in Mauritius amongst the highest in the world. As T2DM and CHD are closely associated and have both a polygenic basis, we conducted a 10 cM genome scan with 403 microsatellite markers in 99 independent families of N...

journal_title：Human molecular genetics

authors： Francke S,Manraj M,Lacquemant C,Lecoeur C,Leprêtre F,Passa P,Hebe A,Corset L,Yan SL,Lahmidi S,Jankee S,Gunness TK,Ramjuttun US,Balgobin V,Dina C,Froguel P

更新日期：2001-11-15 00:00:00

abstract：:Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional...

journal_title：Human molecular genetics

authors： Fogel BL,Cho E,Wahnich A,Gao F,Becherel OJ,Wang X,Fike F,Chen L,Criscuolo C,De Michele G,Filla A,Collins A,Hahn AF,Gatti RA,Konopka G,Perlman S,Lavin MF,Geschwind DH,Coppola G

更新日期：2014-09-15 00:00:00

abstract：:RAD51C was defined by Meindl et al. in 2010 as a high-risk gene involved in hereditary breast and ovarian cancers. Although this role seems to be clear, nowadays there is controversy about the indication of including the gene in routine clinical genetic testing, due to the lower prevalence or the absence of mutations ...

journal_title：Human molecular genetics

authors： Osorio A,Endt D,Fernández F,Eirich K,de la Hoya M,Schmutzler R,Caldés T,Meindl A,Schindler D,Benitez J

更新日期：2012-07-01 00:00:00

abstract：:PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common to all isoforms. Due to the ubiquitous presence of plectin in mamm...

journal_title：Human molecular genetics

authors： Gostyńska KB,Nijenhuis M,Lemmink H,Pas HH,Pasmooij AM,Lang KK,Castañón MJ,Wiche G,Jonkman MF

更新日期：2015-06-01 00:00:00

abstract：:Twist1 is a basic helix-loop-helix transcription factor, essential during early development in mammals. While Twist1 induces epithelial-to-mesenchymal transition (EMT), here we show that Twist1 overexpression enhances nuclear and mitotic aberrations. This is accompanied by an increase in whole chromosomal copy number ...

journal_title：Human molecular genetics

authors： Khot M,Sreekumar D,Jahagirdar S,Kulkarni A,Hari K,Faseela EE,Sabarinathan R,Jolly MK,Sengupta K

更新日期：2020-06-27 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：:Understanding the role of the epigenome in protein-misfolding diseases remains a challenge in light of genetic diversity found in the world-wide population revealed by human genome sequencing efforts and the highly variable response of the disease population to therapeutics. An ever-growing body of evidence has shown ...

journal_title：Human molecular genetics

authors： Anglès F,Hutt DM,Balch WE

更新日期：2019-06-15 00:00:00

abstract：:Dysfunction of mitochondrial translation is an increasingly important molecular cause of human disease, but structural defects of mitochondrial ribosomal subunits are rare. We used next-generation sequencing to identify a homozygous variant in the mitochondrial small ribosomal protein 14 (MRPS14, uS14m) in a patient m...

journal_title：Human molecular genetics

authors： Jackson CB,Huemer M,Bolognini R,Martin F,Szinnai G,Donner BC,Richter U,Battersby BJ,Nuoffer JM,Suomalainen A,Schaller A

更新日期：2019-02-15 00:00:00

abstract：:The genes of the piwi family are defined by conserved PAZ and Piwi domains and play important roles in stem-cell self-renewal, RNA silencing and translational regulation in various organisms. Both, mouse and human Piwil2 genes, members of the piwi gene family, are specifically expressed in testis. We report here enhan...

journal_title：Human molecular genetics

authors： Lee JH,Schütte D,Wulf G,Füzesi L,Radzun HJ,Schweyer S,Engel W,Nayernia K

更新日期：2006-01-15 00:00:00

abstract：:G protein-coupled receptor 154 (GPR154) is a recently discovered asthma susceptibility gene upregulated in the airways of asthma patients. We previously observed increased pulmonary mRNA expression of the murine ortholog Gpr154 in a mouse model of ovalbumin (OVA)-induced inflammation. However, the expression profile o...

journal_title：Human molecular genetics

authors： Pulkkinen V,Majuri ML,Wang G,Holopainen P,Obase Y,Vendelin J,Wolff H,Rytilä P,Laitinen LA,Haahtela T,Laitinen T,Alenius H,Kere J,Rehn M

更新日期：2006-05-15 00:00:00

abstract：:A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a ...

journal_title：Human molecular genetics

authors： Cartier N,Sarde CO,Douar AM,Mosser J,Mandel JL,Aubourg P

更新日期：1993-11-01 00:00:00

abstract：:Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on the long arm of chromosome 13, accounts for approximately 80% of cases in the Mediterranean area. Further...

journal_title：Human molecular genetics

authors： Zelante L,Gasparini P,Estivill X,Melchionda S,D'Agruma L,Govea N,Milá M,Monica MD,Lutfi J,Shohat M,Mansfield E,Delgrosso K,Rappaport E,Surrey S,Fortina P

更新日期：1997-09-01 00:00:00

abstract：:Migraine is a prevalent, debilitating and costly disorder with an ongoing unmet medical need. Human genetic studies have provided considerable insights into the molecular underpinnings of this complex brain disorder. Classical linkage studies have revealed the causes of familial hemiplegic migraine, while more recentl...

journal_title：Human molecular genetics

authors： Zameel Cader M

更新日期：2013-10-15 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder with impaired very long-chain fatty acid (VLCFA) metabolism. The disease-associated ABCD1 (ALD) gene encodes a peroxisomal membrane protein, which belongs to the superfamily of ATP-binding cassette transporters. Several treatment regimes have...

journal_title：Human molecular genetics

authors： Weinhofer I,Forss-Petter S,Zigman M,Berger J

更新日期：2002-10-15 00:00:00

abstract：:Neurofibromas are common tumors found in neurofibromatosis type 1 (NF1) patients. These complex tumors are composed of Schwann cells, mast cells, fibroblasts and perineurial cells embedded in collagen that provide a lattice for tumor invasion. Genetic studies demonstrate that in neurofibromas, nullizygous loss of Nf1 ...

journal_title：Human molecular genetics

authors： Yang FC,Chen S,Clegg T,Li X,Morgan T,Estwick SA,Yuan J,Khalaf W,Burgin S,Travers J,Parada LF,Ingram DA,Clapp DW

更新日期：2006-08-15 00:00:00

abstract：:The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...

journal_title：Human molecular genetics

authors： Suzuki Y,Pasch A,Bonny O,Mohaupt MG,Hediger MA,Frey FJ

更新日期：2008-06-01 00:00:00

abstract：:PTEN-induced putative kinase 1 (PINK1) and Parkin act in a common pathway to regulate mitochondrial dynamics, the involvement of which in the pathogenesis of Parkinson's disease (PD) is increasingly being appreciated. However, how the PINK1/Parkin pathway influences mitochondrial function is not well understood, and t...

journal_title：Human molecular genetics

authors： Yu W,Sun Y,Guo S,Lu B

更新日期：2011-08-15 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：:l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct a...

journal_title：Human molecular genetics

authors： Topçu M,Jobard F,Halliez S,Coskun T,Yalçinkayal C,Gerceker FO,Wanders RJ,Prud'homme JF,Lathrop M,Ozguc M,Fischer J

更新日期：2004-11-15 00:00:00

abstract：:Genomic imprinting is the phenomenon whereby mono-allelic expression of certain genes occurs depending on their parental origin. The observation that imprinting only occurs in placental mammals has led to the suggestion that it may play a role in this form of reproduction. In the present study we have investigated the...

journal_title：Human molecular genetics

authors： Hiby SE,Lough M,Keverne EB,Surani MA,Loke YW,King A

更新日期：2001-05-01 00:00:00

abstract：:Homozygous inv mice lack a functional inversin protein and exhibit situs inversus plus severe cystic changes in the kidney and pancreas. Although the inversin sequence has provided few clues to its function, we and others have previously identified calmodulin as a binding partner. We now provide evidence that inversin...

journal_title：Human molecular genetics

authors： Morgan D,Eley L,Sayer J,Strachan T,Yates LM,Craighead AS,Goodship JA

更新日期：2002-12-15 00:00:00

abstract：:PRESENILIN1 (PSEN1) is the major locus for mutations causing familial Alzheimer's disease (FAD) and is also mutated in Pick disease of brain, familial acne inversa and dilated cardiomyopathy. It is a critical facilitator of Notch signalling and many other signalling pathways and protein cleavage events including produ...

journal_title：Human molecular genetics

authors： Newman M,Wilson L,Verdile G,Lim A,Khan I,Moussavi Nik SH,Pursglove S,Chapman G,Martins RN,Lardelli M

更新日期：2014-02-01 00:00:00

abstract：:Prolonged depolarization of skeletal muscle cells induces entry of extracellular calcium into muscle cells, an event referred to as excitation-coupled calcium entry. Skeletal muscle excitation-coupled calcium entry relies on the interaction between the 1,4-dihydropyridine receptor on the sarcolemma and the ryanodine r...

journal_title：Human molecular genetics

authors： Treves S,Vukcevic M,Jeannet PY,Levano S,Girard T,Urwyler A,Fischer D,Voit T,Jungbluth H,Lillis S,Muntoni F,Quinlivan R,Sarkozy A,Bushby K,Zorzato F

更新日期：2011-02-01 00:00:00

abstract：:F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ...

journal_title：Human molecular genetics

authors： Mayr JA,Havlícková V,Zimmermann F,Magler I,Kaplanová V,Jesina P,Pecinová A,Nusková H,Koch J,Sperl W,Houstek J

更新日期：2010-09-01 00:00:00

abstract：:Cellular protein homeostasis is achieved by a delicate network of molecular chaperones and various proteolytic processes such as ubiquitin-proteasome system (UPS) to avoid a build-up of misfolded protein aggregates. The latter is a common denominator of neurodegeneration. Neurons are found to be particularly vulnerabl...

journal_title：Human molecular genetics

authors： Kim E,Wang B,Sastry N,Masliah E,Nelson PT,Cai H,Liao FF

更新日期：2016-01-15 00:00:00

abstract：:Genetic analysis of mouse mutants has demonstrated the importance of the homeobox genes Rpx, Lhx3 and Pit1 for anterior pituitary gland development. Pit1 mutations have also been identified in several human families with multiple pituitary hormone deficiencies. To identify additional homeobox regulators of pituitary d...

journal_title：Human molecular genetics

authors： Gage PJ,Camper SA

更新日期：1997-03-01 00:00:00

abstract：:We studied the association between common haplotypes in six relevant lipid metabolism genes with plasma lipid levels. We selected single-nucleotide polymorphisms (SNPs) in the cholesterol ester transfer protein (CETP), lipoprotein lipase (LPL), hepatic triglyceride lipase (HL), low-density lipoprotein cholesterol rece...

journal_title：Human molecular genetics

authors： Knoblauch H,Bauerfeind A,Krähenbühl C,Daury A,Rohde K,Bejanin S,Essioux L,Schuster H,Luft FC,Reich JG

更新日期：2002-06-01 00:00:00