The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.

abstract：:Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion regi...

journal_title：Human molecular genetics

authors： Coppinger J,McDonald-McGinn D,Zackai E,Shane K,Atkin JF,Asamoah A,Leland R,Weaver DD,Lansky-Shafer S,Schmidt K,Feldman H,Cohen W,Phalin J,Powell B,Ballif BC,Theisen A,Geiger E,Haldeman-Englert C,Shaikh TH,Saitta S,

更新日期：2009-04-15 00:00:00

abstract：:Even though heritability estimates suggest that the risk of asthma, hay fever and eczema is largely due to genetic factors, previous studies have not explained a large part of the genetics behind these diseases. In this genome-wide association study, we include 346 545 Caucasians from the UK Biobank to identify novel ...

journal_title：Human molecular genetics

authors： Johansson Å,Rask-Andersen M,Karlsson T,Ek WE

更新日期：2019-12-01 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：:Congenital heart defects comprise the most common form of major birth defects, affecting 0.7% of all newborn infants. Jacobsen syndrome (11q-) is a rare chromosomal disorder caused by deletions in distal 11q. We have previously determined that a wide spectrum of the most common congenital heart defects occur in 11q-, ...

journal_title：Human molecular genetics

authors： Ye M,Coldren C,Liang X,Mattina T,Goldmuntz E,Benson DW,Ivy D,Perryman MB,Garrett-Sinha LA,Grossfeld P

更新日期：2010-02-15 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：:Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected s...

journal_title：Human molecular genetics

authors： Slavotinek AM,Mehrotra P,Nazarenko I,Tang PL,Lao R,Cameron D,Li B,Chu C,Chou C,Marqueling AL,Yahyavi M,Cordoro K,Frieden I,Glaser T,Prescott T,Morren MA,Devriendt K,Kwok PY,Petkovich M,Desnick RJ

更新日期：2013-02-15 00:00:00

abstract：:We recently reported that mutations in the widely expressed nuclear protein TOPORS (topoisomerase I-binding arginine/serine rich) are associated with autosomal dominant retinal degeneration. However, the precise localization and a functional role of TOPORS in the retina remain unknown. Here, we demonstrate that TOPORS...

journal_title：Human molecular genetics

authors： Chakarova CF,Khanna H,Shah AZ,Patil SB,Sedmak T,Murga-Zamalloa CA,Papaioannou MG,Nagel-Wolfrum K,Lopez I,Munro P,Cheetham M,Koenekoop RK,Rios RM,Matter K,Wolfrum U,Swaroop A,Bhattacharya SS

更新日期：2011-03-01 00:00:00

abstract：:Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the human dystrophin gene. About two-thirds of DMD/BMD patients exhibit gross rearrangements in the gene whereas the mutations in the remaining one third are thought to be point mutations or minor structural lesions. By means of various prog...

journal_title：Human molecular genetics

authors： Lenk U,Hanke R,Thiele H,Speer A

更新日期：1993-11-01 00:00:00

abstract：:The IL12B gene encodes the common p40 subunit of IL-12 and IL-23, cytokines with key roles in Th1 and Th17 biology, respectively, and genetic variation in this region significantly influences risk of psoriasis. Here, we demonstrate that a psoriasis-associated risk haplotype at the IL12B locus leads to increased expres...

journal_title：Human molecular genetics

authors： Johnston A,Xing X,Swindell WR,Kochkodan J,Riblett M,Nair RP,Stuart PE,Ding J,Voorhees JJ,Elder JT,Gudjonsson JE

更新日期：2013-05-01 00:00:00

abstract：:We describe a detection principle for indirect fluorescence in situ hybridization (FISH) methods that with only one or two antibody layers dramatically improves FISH signal intensities. The method uses as a first layer an anti-hapten immunoglobulin [or (strept)avidin] conjugated to peroxidase. The quintessence of the ...

journal_title：Human molecular genetics

authors： Raap AK,van de Corput MP,Vervenne RA,van Gijlswijk RP,Tanke HJ,Wiegant J

更新日期：1995-04-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders. The gene responsible for the disease has a very high mutation rate, approximately fifty per cent of NF1 patients appear to have a de novo mutation. The search for mutations is hampered by the large size of the NF1 gene and up to date, relati...

journal_title：Human molecular genetics

authors： Valero MC,Velasco E,Moreno F,Hernández-Chico C

更新日期：1994-04-01 00:00:00

abstract：:HTRA2-BETA1 is an SR-like protein that regulates alternative splice site selection in a concentration-dependent manner. Its proper concentration is important as several pathological states are associated with its change. We investigated the mechanism that controls the cellular HTRA2-BETA1 concentration and found it ut...

journal_title：Human molecular genetics

authors： Stoilov P,Daoud R,Nayler O,Stamm S

更新日期：2004-03-01 00:00:00

abstract：:Protein engineering is a means to optimize protein therapeutics developed for the treatment of so far incurable diseases including cancers and genetic disorders. Here we report on an engineering approach in which we successfully increased the catalytic rate constant of an enzyme that is presently evaluated in enzyme r...

journal_title：Human molecular genetics

authors： Simonis H,Yaghootfam C,Sylvester M,Gieselmann V,Matzner U

更新日期：2019-06-01 00:00:00

abstract：:Huntington's disease (HD) is caused by expansion of the polymorphic polyglutamine segment in the huntingtin protein. Full-length huntingtin is thought to be a predominant HEAT repeat alpha-solenoid, implying a role as a facilitator of macromolecular complexes. Here we have investigated huntingtin's domain structure an...

journal_title：Human molecular genetics

authors： Seong IS,Woda JM,Song JJ,Lloret A,Abeyrathne PD,Woo CJ,Gregory G,Lee JM,Wheeler VC,Walz T,Kingston RE,Gusella JF,Conlon RA,MacDonald ME

更新日期：2010-02-15 00:00:00

abstract：:Muscular dystrophies are a group of genetic diseases that lead to muscle wasting and, in most cases, premature death. Cytokines and inflammatory factors are released during the disease process where they promote deleterious signaling events that directly participate in myofiber death. Here, we show that p38α, a kinase...

journal_title：Human molecular genetics

authors： Wissing ER,Boyer JG,Kwong JQ,Sargent MA,Karch J,McNally EM,Otsu K,Molkentin JD

更新日期：2014-10-15 00:00:00

abstract：:The Vesicle-associated membrane protein (VAMP)-Associated Protein B (VAPB) is the causative gene of amyotrophic lateral sclerosis 8 (ALS8) in humans. Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by selective death of motor neurons leading to spasticity, muscle atrophy an...

journal_title：Human molecular genetics

authors： Forrest S,Chai A,Sanhueza M,Marescotti M,Parry K,Georgiev A,Sahota V,Mendez-Castro R,Pennetta G

更新日期：2013-07-01 00:00:00

abstract：:Formation of protein aggregates is the hallmark of neurodegenerative diseases such as Alzheimer's disease, Huntington's disease, and frontotemporal dementia. Many ubiquitin-associated proteins are recruited to protein aggregates, such as sequestosome 1/p62 (p62), parkin, and cereblon (CRBN). However, the roles of thes...

journal_title：Human molecular genetics

authors： Zhou L,Hao Z,Wang G,Xu G

更新日期：2018-02-15 00:00:00

abstract：:Peroxisomes are vital eukaryotic organelles that participate in lipid metabolism, in particular the metabolism of very-long-chain fatty acids (VLCFA). The biogenesis of peroxisomes is regulated by a set of peroxin proteins (PEX). In humans, mutations affecting peroxin protein production or function result in devastati...

journal_title：Human molecular genetics

authors： Chen H,Liu Z,Huang X

更新日期：2010-02-01 00:00:00

abstract：:Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase...

journal_title：Human molecular genetics

authors： Weterman MAJ,Kuo M,Kenter SB,Gordillo S,Karjosukarso DW,Takase R,Bronk M,Oprescu S,van Ruissen F,Witteveen RJW,Bienfait HME,Breuning M,Verhamme C,Hou YM,de Visser M,Antonellis A,Baas F

更新日期：2018-12-01 00:00:00

abstract：:Despite advancements in genetic studies, it is difficult to understand and characterize the functional relevance of disease-associated genetic variants, especially in the context of a complex multifactorial disease such as multiple sclerosis (MS). As a large proportion of expression quantitative trait loci (eQTLs) are...

journal_title：Human molecular genetics

authors： James T,Lindén M,Morikawa H,Fernandes SJ,Ruhrmann S,Huss M,Brandi M,Piehl F,Jagodic M,Tegnér J,Khademi M,Olsson T,Gomez-Cabrero D,Kockum I

更新日期：2018-03-01 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：:Mutations in transforming growth factor beta (TGFβ) receptor type II (TGFBR2) cause Loeys-Dietz syndrome, characterized by craniofacial and cardiovascular abnormalities. Mice with a deletion of Tgfbr2 in cranial neural crest cells (Tgfbr2(fl/fl);Wnt1-Cre mice) develop cleft palate as the result of abnormal TGFβ signal...

journal_title：Human molecular genetics

authors： Iwata J,Suzuki A,Pelikan RC,Ho TV,Sanchez-Lara PA,Chai Y

更新日期：2014-01-01 00:00:00

abstract：:Deficiency of the mitochondrial matrix protein frataxin causes Friedreich ataxia. Frataxin function is believed to be related to mitochondrial iron metabolism and free radical production. In Friedreich ataxia, loss of dorsal root ganglia neurons occurs early in life, suggesting a developmental process. In addition, fr...

journal_title：Human molecular genetics

authors： Santos MM,Ohshima K,Pandolfo M

更新日期：2001-09-01 00:00:00

abstract：:Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone photoreceptor type, but near absence of function of the majority rod receptor. NR2E3 disease can also progress to blindn...

journal_title：Human molecular genetics

authors： Jacobson SG,Sumaroka A,Aleman TS,Cideciyan AV,Schwartz SB,Roman AJ,McInnes RR,Sheffield VC,Stone EM,Swaroop A,Wright AF

更新日期：2004-09-01 00:00:00

abstract：:Galphaq, encoded by the human GNAQ gene, is an effector subunit of the Gq heterotrimeric G-protein and the convergence point for signaling of multiple Gq-coupled neurohormonal receptors. To identify naturally occurring mutations that could modify GNAQ transcription, we examined genomic DNA isolated from 355 normal sub...

journal_title：Human molecular genetics

authors： Liggett SB,Kelly RJ,Parekh RR,Matkovich SJ,Benner BJ,Hahn HS,Syed FM,Galvez AS,Case KL,McGuire N,Odley AM,Sparks L,Kardia SL,Dorn GW 2nd

更新日期：2007-11-15 00:00:00

abstract：:Sonic Hedgehog (SHH) is one of the most intensively studied genes in developmental biology. It is a highly conserved gene, found in species as diverse as arthropods and mammals. The mammalian SHH encodes a signaling molecule that plays a central role in developmental patterning, especially of the nervous system and th...

journal_title：Human molecular genetics

authors： Dorus S,Anderson JR,Vallender EJ,Gilbert SL,Zhang L,Chemnick LG,Ryder OA,Li W,Lahn BT

更新日期：2006-07-01 00:00:00

abstract：:Chromosomal common fragile sites (CFSs) are genetically unstable regions of the genome that are induced by conditions that impair DNA replication. In this report, we show that treatment with the DNA polymerase inhibitor, aphidicolin (APH), slows the replication rate throughout S phase. To investigate the unusual sensi...

journal_title：Human molecular genetics

authors： Palakodeti A,Lucas I,Jiang Y,Young DJ,Fernald AA,Karrison T,Le Beau MM

更新日期：2010-01-01 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：:Spinocerebellar ataxia type 1 (SCA1) is one of nine dominantly inherited neurodegenerative diseases caused by polyglutamine tract expansion. In SCA1, the expanded polyglutamine tract is in the ataxin-1 (ATXN1) protein. ATXN1 is part of an in vivo complex with retinoid acid receptor-related orphan receptor alpha (Rora)...

journal_title：Human molecular genetics

authors： Gehrking KM,Andresen JM,Duvick L,Lough J,Zoghbi HY,Orr HT

更新日期：2011-06-01 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