Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk.

abstract：:Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a fundamental question of ...

journal_title：Human molecular genetics

authors： Motyl AAL,Faller KME,Groen EJN,Kline RA,Eaton SL,Ledahawsky LM,Chaytow H,Lamont DJ,Wishart TM,Huang YT,Gillingwater TH

更新日期：2020-09-29 00:00:00

abstract：:The timing of DNA replication appears to be an important epigenetic regulator of gene expression during development. Replication of active genes in expressing tissues occurs earlier than does replication of their inactive counterparts in nonexpressing tissues. This pattern is also observed for active and inactive alle...

journal_title：Human molecular genetics

authors： Hansen RS,Canfield TK,Gartler SM

更新日期：1995-05-01 00:00:00

abstract：:Meiotic recombination is of fundamental importance in creating haplotype diversity in the human genome and has the potential to cause genomic rearrangements by ectopic recombination between repeat sequences and through other changes triggered by recombination-initiating events. However, the relationship between alleli...

journal_title：Human molecular genetics

authors： Holloway K,Lawson VE,Jeffreys AJ

更新日期：2006-04-01 00:00:00

abstract：:Periodontitis is a widespread, complex inflammatory disease of the mouth, which results in a loss of gingival tissue and alveolar bone, with aggressive periodontitis (AgP) as its most severe form. To identify genetic risk factors for periodontitis, we conducted a genome-wide association study in German AgP patients. W...

journal_title：Human molecular genetics

authors： Schaefer AS,Richter GM,Nothnagel M,Manke T,Dommisch H,Jacobs G,Arlt A,Rosenstiel P,Noack B,Groessner-Schreiber B,Jepsen S,Loos BG,Schreiber S

更新日期：2010-02-01 00:00:00

abstract：:Usher syndrome (USH) refers to genetically and clinically heterogeneous autosomal recessive disorders with combined visual and hearing loss. Type I (USH1) is characterized by a congenital, severe to profound hearing loss and absent vestibular function; in type II (USH2) the hearing loss is congenital and moderate to s...

journal_title：Human molecular genetics

authors： Sankila EM,Pakarinen L,Kääriäinen H,Aittomäki K,Karjalainen S,Sistonen P,de la Chapelle A

更新日期：1995-01-01 00:00:00

abstract：:Osteoarthritis (OA) is a common, painful and debilitating disease of articulating joints resulting from the age-associated loss of cartilage. Well-powered genetic studies have identified a number of DNA polymorphisms that are associated with OA susceptibility. Like most complex trait loci, these OA loci are thought to...

journal_title：Human molecular genetics

authors： Rushton MD,Reynard LN,Young DA,Shepherd C,Aubourg G,Gee F,Darlay R,Deehan D,Cordell HJ,Loughlin J

更新日期：2015-12-20 00:00:00

abstract：:Epidermolytic hyperkeratosis (EHK), (bullous congenital ichthyosiform erythroderma), is an autosomal dominant human skin disorder. Recently, we and others have described mutations in keratins 1 and 10 (K1 and K10) in patients with this disease. Structure-function models predict that these mutations would impair normal...

journal_title：Human molecular genetics

authors： Rothnagel JA,Fisher MP,Axtell SM,Pittelkow MR,Anton-Lamprecht I,Huber M,Hohl D,Roop DR

更新日期：1993-12-01 00:00:00

abstract：:Fourteen neurological diseases have been associated with the expansion of trinucleotide repeat regions. These diseases have been categorized into those that give rise to the translation of toxic polyglutamine proteins and those that are untranslated. Thus far, compelling evidence has not surfaced for the inclusion of ...

journal_title：Human molecular genetics

authors： Peel AL,Rao RV,Cottrell BA,Hayden MR,Ellerby LM,Bredesen DE

更新日期：2001-07-15 00:00:00

abstract：:Genome-wide scans for linkage of chromosome regions to type 1 diabetes in affected sib pair families have revealed that the major susceptibility locus resides within the major histocompatibility complex (MHC) on chromosome 6p21 (lambda S = 2.4). It is recognized that the MHC contains multiple susceptibility loci (refe...

journal_title：Human molecular genetics

authors： Todd JA,Farrall M

更新日期：1996-01-01 00:00:00

abstract：:Despite extensive progress in Huntington's disease (HD) research, very little is known about the association of epigenetic variation and HD pathogenesis in human brain tissues. Moreover, its contribution to the tissue-specific transcriptional regulation of the huntingtin gene (HTT), in which HTT expression levels are ...

journal_title：Human molecular genetics

authors： De Souza RA,Islam SA,McEwen LM,Mathelier A,Hill A,Mah SM,Wasserman WW,Kobor MS,Leavitt BR

更新日期：2016-05-15 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：:Ribonuclease H2 plays an essential role for genome stability as it removes ribonucleotides misincorporated into genomic DNA by replicative polymerases and resolves RNA/DNA hybrids. Biallelic mutations in the genes encoding the three RNase H2 subunits cause Aicardi-Goutières syndrome (AGS), an early-onset inflammatory ...

journal_title：Human molecular genetics

authors： Kind B,Muster B,Staroske W,Herce HD,Sachse R,Rapp A,Schmidt F,Koss S,Cardoso MC,Lee-Kirsch MA

更新日期：2014-11-15 00:00:00

abstract：:Paraspeckles are nuclear bodies formed by a set of specialized proteins assembled on the long non-coding RNA NEAT1; they have a role in nuclear retention of hyperedited transcripts and are associated with response to cellular stress. Fused in sarcoma (FUS) protein, linked to a number of neurodegenerative disorders, is...

journal_title：Human molecular genetics

authors： Shelkovnikova TA,Robinson HK,Troakes C,Ninkina N,Buchman VL

更新日期：2014-05-01 00:00:00

abstract：:Identifying the causes of high fever syndromes such as Kawasaki disease (KD) remains challenging. To investigate pathogen exposure signatures in suspected pathogen-mediated diseases such as KD, we performed immunoglobulin (Ig) profiling using a next-generation sequencing method. After intravenous Ig (IVIG) treatment, ...

journal_title：Human molecular genetics

authors： Ko TM,Kiyotani K,Chang JS,Park JH,Yin Yew P,Chen YT,Wu JY,Nakamura Y

更新日期：2018-08-01 00:00:00

abstract：:Genome-wide association studies and, more recently, next-generation sequencing studies have accelerated the investigation of complex human traits by providing a wealth of association data linking genetic variants to diseases and other phenotypic traits. These data promise to transform our understanding of the molecula...

journal_title：Human molecular genetics

authors： Peters DT,Musunuru K

更新日期：2012-10-15 00:00:00

abstract：:Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy and is caused by loss-of-function mutations in the BSCL2/seipin gene. Exactly how seipin may regulate adipogenesis remains unclear. A recent study in vitro suggested that seipin may function to inhibit the activity...

journal_title：Human molecular genetics

authors： Gao M,Liu L,Wang X,Mak HY,Liu G,Yang H

更新日期：2020-02-01 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：:Slow-channel syndrome (SCS) is a congenital myasthenic disorder caused by point mutations in subunits of skeletal muscle acetylcholine receptor leading to Ca(2+) overload and degeneration of the postsynaptic membrane, nuclei and mitochondria of the neuromuscular junction (NMJ). In both SCS muscle biopsies and transgen...

journal_title：Human molecular genetics

authors： Zhu H,Pytel P,Gomez CM

更新日期：2014-01-01 00:00:00

abstract：:Recent studies in mice have clearly demonstrated that eliminating Apo E alters the rate, character and distribution of A beta deposits. In the present study, we asked whether elevating the levels of Apo E can, in a dominant fashion, influence amyloid deposition. We expressed human (Hu) Apo E4 via the mouse prion prote...

journal_title：Human molecular genetics

authors： Lesuisse C,Xu G,Anderson J,Wong M,Jankowsky J,Holtz G,Gonzalez V,Wong PC,Price DL,Tang F,Wagner S,Borchelt DR

更新日期：2001-10-15 00:00:00

abstract：:Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. Previous in vitro studies have shown that seipinopathy-linked m...

journal_title：Human molecular genetics

authors： Yagi T,Ito D,Nihei Y,Ishihara T,Suzuki N

更新日期：2011-10-01 00:00:00

abstract：:Ataxia-telangiectasia (A-T) is a multisystem, cancer-predisposing genetic disorder caused by deficiency of the ATM protein. To dissect the A-T phenotype, we augmented specific features of the human disease by generating mouse strains that combine Atm deficiency with dysfunction of other proteins. Increasing oxidative ...

journal_title：Human molecular genetics

authors： Ziv S,Brenner O,Amariglio N,Smorodinsky NI,Galron R,Carrion DV,Zhang W,Sharma GG,Pandita RK,Agarwal M,Elkon R,Katzin N,Bar-Am I,Pandita TK,Kucherlapati R,Rechavi G,Shiloh Y,Barzilai A

更新日期：2005-10-01 00:00:00

abstract：:The comparison of several statistical methods currently used for detection of differentially expressed genes was attempted both by a simulation approach and by the analysis of data sets of human expressed sequence tags, obtained from UniGene. In the simulated mixed case, mimicking a situation close to reality, the gen...

journal_title：Human molecular genetics

authors： Romualdi C,Bortoluzzi S,Danieli GA

更新日期：2001-09-15 00:00:00

abstract：:Recent studies with tiling arrays have revealed more genomic transcription than previously anticipated. Whole new groups of non-coding transcripts (NCTs) have been detected. Some of these NCTs, including miRNAs, can regulate gene expression. To date, most known NCTs studied have been relatively short, but several impo...

journal_title：Human molecular genetics

authors： Perez DS,Hoage TR,Pritchett JR,Ducharme-Smith AL,Halling ML,Ganapathiraju SC,Streng PS,Smith DI

更新日期：2008-03-01 00:00:00

abstract：:Maintenance of an intact mitochondrial genome is essential for oxidative phosphorylation in all eukaryotes. Depletion of mitochondrial genome copy number can have severe pathological consequences due to loss of respiratory capacity. In Saccharomyces cerevisiae, several bifunctional metabolic enzymes have been shown to...

journal_title：Human molecular genetics

authors： Iacovino M,Granycome C,Sembongi H,Bokori-Brown M,Butow RA,Holt IJ,Bateman JM

更新日期：2009-01-01 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 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many...

journal_title：Human molecular genetics

authors： Liu N,Schoch K,Luo X,Pena LDM,Bhavana VH,Kukolich MK,Stringer S,Powis Z,Radtke K,Mroske C,Deak KL,McDonald MT,McConkie-Rosell A,Markert ML,Kranz PG,Stong N,Need AC,Bick D,Amaral MD,Worthey EA,Levy S,Undiagnosed

更新日期：2018-07-15 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：:Alzheimer's disease (AD) is characterized by both amyloid and Tau pathologies. The amyloid component and altered cholesterol metabolism are closely linked, but the relationship between Tau pathology and cholesterol is currently unclear. Brain cholesterol is synthesized in situ and cannot cross the blood-brain barrier:...

journal_title：Human molecular genetics

authors： Burlot MA,Braudeau J,Michaelsen-Preusse K,Potier B,Ayciriex S,Varin J,Gautier B,Djelti F,Audrain M,Dauphinot L,Fernandez-Gomez FJ,Caillierez R,Laprévote O,Bièche I,Auzeil N,Potier MC,Dutar P,Korte M,Buée L,Blum D,

更新日期：2015-11-01 00:00:00

abstract：:Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents ...

journal_title：Human molecular genetics

authors： Yang GC,Croaker D,Zhang AL,Manglick P,Cartmill T,Cass D

更新日期：1998-06-01 00:00:00

abstract：:Differential allelic expression has been shown to be common in mice, humans and maize, and variability in the expression of polymorphic alleles has been associated with human disease. Here, we describe the differential expression pattern of Paraoxonase-1, a gene involved in lipid metabolism and implicated in the forma...

journal_title：Human molecular genetics

authors： Parker-Katiraee L,Bousiaki E,Monk D,Moore GE,Nakabayashi K,Scherer SW

更新日期：2008-11-01 00:00:00