Monoamine oxidase A knockout mice exhibit impaired nicotine preference but normal responses to novel stimuli.

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：:Uniparental disomy (UPD) is defined as the inheritance of both homologs of a given genomic region from only one parent. The majority of UPD includes an entire chromosome. However, the extent of UPD is sometimes limited to a subchromosomal region (segmental UPD). Mosaic paternal UPD (pUPD) of chromosome 11 is found in ...

journal_title：Human molecular genetics

authors： Ohtsuka Y,Higashimoto K,Oka T,Yatsuki H,Jozaki K,Maeda T,Kawahara K,Hamasaki Y,Matsuo M,Nishioka K,Joh K,Mukai T,Soejima H

更新日期：2016-04-01 00:00:00

abstract：:The first steps of ether lipid biosynthesis are exclusively localized to peroxisomes and hence some peroxisomal disorders are characterized by a severe deficiency of plasmalogens, the main ether lipids in humans. Here we report on gene defects of plasmalogen biosynthesis, chromosomal localization of the corresponding ...

journal_title：Human molecular genetics

authors： Thai TP,Rodemer C,Jauch A,Hunziker A,Moser A,Gorgas K,Just WW

更新日期：2001-01-15 00:00:00

abstract：:In neurodegenerative disorders associated with primary or secondary mitochondrial defects such as Huntington's disease (HD), cells of the striatum are particularly vulnerable to cell death, although the mechanisms by which this cell death is induced are unclear. Dopamine, found in high concentrations in the striatum, ...

journal_title：Human molecular genetics

authors： Benchoua A,Trioulier Y,Diguet E,Malgorn C,Gaillard MC,Dufour N,Elalouf JM,Krajewski S,Hantraye P,Déglon N,Brouillet E

更新日期：2008-05-15 00:00:00

abstract：:Prolactinomas are the most frequent type of pituitary tumors, which represent 10-20% of all intracranial neoplasms in humans. Prolactinomas develop in mice lacking the prolactin receptor (PRLR), which is a member of the cytokine receptor superfamily that signals via Janus kinase-2-signal transducer and activator of tr...

journal_title：Human molecular genetics

authors： Gorvin CM,Newey PJ,Rogers A,Stokes V,Neville MJ,Lines KE,Ntali G,Lees P,Morrison PJ,Singhellakis PN,Malandrinou FC,Karavitaki N,Grossman AB,Karpe F,Thakker RV

更新日期：2019-03-15 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：: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：:The breast cancer gene, BRCA2, is essential for viability, yet patients with Fanconi anemia-D1 subtype are born alive with biallelic mutations in this gene. The hypomorphic nature of the mutations is believed to support viability, but this is not always apparent. One such mutation is IVS7+2T>G, which causes premature ...

journal_title：Human molecular genetics

authors： Thirthagiri E,Klarmann KD,Shukla AK,Southon E,Biswas K,Martin BK,North SL,Magidson V,Burkett S,Haines DC,Noer K,Matthai R,Tessarollo L,Loncarek J,Keller JR,Sharan SK

更新日期：2016-05-15 00:00:00

abstract：:Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a g...

journal_title：Human molecular genetics

authors： Renieri A,Seri M,Myers JC,Pihlajaniemi T,Massella L,Rizzoni G,De Marchi M

更新日期：1992-05-01 00:00:00

abstract：:Histamine (HA) acts as a neurotransmitter in the brain, which participates in the regulation of many biological processes including inflammation, gastric acid secretion and neuromodulation. The enzyme histamine N-methyltransferase (HNMT) inactivates HA by transferring a methyl group from S-adenosyl-l-methionine to HA,...

journal_title：Human molecular genetics

authors： Heidari A,Tongsook C,Najafipour R,Musante L,Vasli N,Garshasbi M,Hu H,Mittal K,McNaughton AJ,Sritharan K,Hudson M,Stehr H,Talebi S,Moradi M,Darvish H,Arshad Rafiq M,Mozhdehipanah H,Rashidinejad A,Samiei S,Ghadami M,

更新日期：2015-10-15 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：:Increased cardiac angiotensin converting enzyme-1 (ACE1) is found in individuals who carry a deletion in intron 16 of ACE1 gene or in individuals who suffer from cardiac disorders, such as hypertrophy. However, whether a single increase in ACE1 expression leads to spontaneous cardiac defects remains unknown. To determ...

journal_title：Human molecular genetics

authors： Tian XL,Pinto YM,Costerousse O,Franz WM,Lippoldt A,Hoffmann S,Unger T,Paul M

更新日期：2004-07-15 00:00:00

abstract：:To determine factors governing triplet repeat expansion at FMR1, we need to understand the basis of normal variation. We have sequenced the FMR1 repeat from 102 normal X chromosomes and show that most are interrupted with a regularly spaced AGG trinucleotide giving an ordered structure to the array. Five types of arra...

journal_title：Human molecular genetics

authors： Hirst MC,Grewal PK,Davies KE

更新日期：1994-09-01 00:00:00

abstract：:Poly(ADP-ribose) polymerase 2 (PARP-2) is a newly discovered member of the PARP family. We report the association of PARP-2 with mammalian centromeres in a cell-cycle-dependent manner, accumulating at centromeres during prometaphase and metaphase, disassociating during anaphase, and disappearing from the centromeres b...

journal_title：Human molecular genetics

authors： Saxena A,Wong LH,Kalitsis P,Earle E,Shaffer LG,Choo KH

更新日期：2002-09-15 00:00:00

abstract：:Mutations in the gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase (PDE6C) have been recently reported in patients with autosomal recessive inherited achromatopsia (ACHM) and early-onset cone photoreceptor dysfunction. Here we present the results of a comprehensive study on PDE6C mutation...

journal_title：Human molecular genetics

authors： Grau T,Artemyev NO,Rosenberg T,Dollfus H,Haugen OH,Cumhur Sener E,Jurklies B,Andreasson S,Kernstock C,Larsen M,Zrenner E,Wissinger B,Kohl S

更新日期：2011-02-15 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：:Aberrant tau protein accumulation drives neurofibrillary tangle (NFT) formation in several neurodegenerative diseases. Currently, efforts to elucidate pathogenic mechanisms and assess the efficacy of therapeutic targets are limited by constraints of existing models of tauopathy. In order to generate a more versatile m...

journal_title：Human molecular genetics

authors： Cook C,Kang SS,Carlomagno Y,Lin WL,Yue M,Kurti A,Shinohara M,Jansen-West K,Perkerson E,Castanedes-Casey M,Rousseau L,Phillips V,Bu G,Dickson DW,Petrucelli L,Fryer JD

更新日期：2015-11-01 00:00:00

abstract：:Osteoarthritis (OA), a common skeletal disease, is a leading cause of disability among the elderly populations. OA is characterized by gradual loss of articular cartilage, but the etiology and pathogenesis of OA are largely unknown. Epidemiological and genetic studies have demonstrated that genetic factors play an imp...

journal_title：Human molecular genetics

authors： Mototani H,Mabuchi A,Saito S,Fujioka M,Iida A,Takatori Y,Kotani A,Kubo T,Nakamura K,Sekine A,Murakami Y,Tsunoda T,Notoya K,Nakamura Y,Ikegawa S

更新日期：2005-04-15 00:00:00

abstract：:Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs. The gene for this disorder has been mapped by linkage studies to chromosomal region 10q24. Here we show that mutations in the LGI1 gene segregate with EPT in two ...

journal_title：Human molecular genetics

authors： Morante-Redolat JM,Gorostidi-Pagola A,Piquer-Sirerol S,Sáenz A,Poza JJ,Galán J,Gesk S,Sarafidou T,Mautner VF,Binelli S,Staub E,Hinzmann B,French L,Prud'homme JF,Passarelli D,Scannapieco P,Tassinari CA,Avanzini G,Martí

更新日期：2002-05-01 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：:TMEM70, a 21-kDa protein localized in the inner mitochondrial membrane, has been shown to facilitate the biogenesis of mammalian F1Fo ATP synthase. Mutations of the TMEM70 gene represent the most frequent cause of isolated ATP synthase deficiency resulting in a severe mitochondrial disease presenting as neonatal encep...

journal_title：Human molecular genetics

authors： Vrbacký M,Kovalčíková J,Chawengsaksophak K,Beck IM,Mráček T,Nůsková H,Sedmera D,Papoušek F,Kolář F,Sobol M,Hozák P,Sedlacek R,Houštěk J

更新日期：2016-11-01 00:00:00

abstract：:Recent findings from genetic epidemiology and from genome-wide association studies point strongly to a partial overlap in the genes that contribute susceptibility to schizophrenia and bipolar disorder (BD). Previous data have also directly implicated one of the best supported schizophrenia-associated loci, zinc finger...

journal_title：Human molecular genetics

authors： Williams HJ,Craddock N,Russo G,Hamshere ML,Moskvina V,Dwyer S,Smith RL,Green E,Grozeva D,Holmans P,Owen MJ,O'Donovan MC

更新日期：2011-01-15 00:00:00

abstract：:DNA methylation (DNAm) has been linked to changes in chromatin structure, gene expression and disease. The DNAm level can be affected by genetic variation; although, how this differs by CpG dinucleotide density and genic location of the DNAm site is not well understood. Moreover, the effect of disease causing variants...

journal_title：Human molecular genetics

authors： Rowlatt A,Hernández-Suárez G,Sanabria-Salas MC,Serrano-López M,Rawlik K,Hernandez-Illan E,Alenda C,Castillejo A,Soto JL,Haley CS,Tenesa A

更新日期：2016-06-15 00:00:00

abstract：:The Hirschsprung disease (HSCR) is a complex congenital disorder, arising from abnormalities in enteric nervous system (ENS) development. There is a gender disparity among the patients, with the male to female ratio as high as 5 : 1. Loss-of-function mutations of HSCR genes and haploinsufficiency of their gene product...

journal_title：Human molecular genetics

authors： Li Y,Kido T,Garcia-Barcelo MM,Tam PK,Tabatabai ZL,Lau YF

更新日期：2015-02-01 00:00:00

abstract：:The internal structure of different alleles of the minisatellite present at the 3' end of the apolipoprotein B (ApoB) gene has been analysed by different approaches including sequencing. The repeat unit arrangements of the minisatellite on 570 chromosomes belonging to European and African populations were thus determi...

journal_title：Human molecular genetics

authors： Buresi C,Desmarais E,Vigneron S,Lamarti H,Smaoui N,Cambien F,Roizes G

更新日期：1996-01-01 00:00:00

abstract：:Immunoglobulins play an essential part in the immune system, and immunoglobulin deficiencies can have profound medical consequences. The genetic control and regulation of the immunoglobulin response is therefore of interest. Previous investigations have identified a number of loci influencing total and specific IgE le...

journal_title：Human molecular genetics

authors： Wiltshire S,Bhattacharyya S,Faux JA,Leaves NI,Daniels SE,Moffatt MF,James A,Musk AW,Cookson WO

更新日期：1998-01-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a devastating X-linked disease affecting ~1 in 5000 males. DMD patients exhibit progressive muscle degeneration and weakness, leading to loss of ambulation and premature death from cardiopulmonary failure. We previously reported that mouse Laminin-111 (msLam-111) protein could redu...

journal_title：Human molecular genetics

authors： Barraza-Flores P,Fontelonga TM,Wuebbles RD,Hermann HJ,Nunes AM,Kornegay JN,Burkin DJ

更新日期：2019-08-15 00:00:00

abstract：:Huntington disease (HD) is a genetic neurodegenerative disorder for which there is currently no cure and no way to stop or even slow the brain changes it causes. In the present study, we aimed to investigate whether FTY720, the first approved oral therapy for multiple sclerosis, may be effective in HD models and event...

journal_title：Human molecular genetics

authors： Di Pardo A,Amico E,Favellato M,Castrataro R,Fucile S,Squitieri F,Maglione V

更新日期：2014-05-01 00:00:00

abstract：:Adoptively transferred antigen-specific T cells that recognize tumor antigens through their native receptors have many potential benefits as treatment for virus-associated diseases and malignancies, due to their ability to selectively recognize tumor antigens, expand and persist to provide long-term protection. Infusi...

journal_title：Human molecular genetics

authors： Manzo T,Heslop HE,Rooney CM

更新日期：2015-10-15 00:00:00

abstract：:Migraine affects ∼14% of the world's population, though not all predisposing causal risk factors are known. We used electronic health records, genetic co-heritability analysis, and a two-sample Mendelian Randomization (MR) design to determine if elevated serum calcium levels were associated with risk of migraine heada...

journal_title：Human molecular genetics

authors： Yin P,Anttila V,Siewert KM,Palotie A,Davey Smith G,Voight BF

更新日期：2017-02-15 00:00:00