Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.

abstract：:Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone diseas...

journal_title：Human molecular genetics

authors： Cao F,Lu L,Abrams SA,Hawthorne KM,Tam A,Jin W,Dawson B,Shypailo R,Liu H,Lee B,Nagamani SCS,Wang LL

更新日期：2017-08-15 00:00:00

abstract：:Williams-Beuren syndrome (WBS) is generally the consequence of an interstitial microdeletion at 7q11.23, which includes the elastin gene, thus causing hemizygosity at the elastin gene locus. The origin of the deletion has been reported by many authors to be maternal in approximately 60% and paternal in 40% of cases. S...

journal_title：Human molecular genetics

authors： Dutly F,Schinzel A

更新日期：1996-12-01 00:00:00

abstract：:We have used the direct cDNA screening protocol to identify sequences transcribed in cerebral cortex from a reference library of human Xq28. To derive coding sequences from these genomic clones, we first identified fragments containing transcribed sequences and subjected these to exon trapping or to partial sequencing...

journal_title：Human molecular genetics

authors： Lawrence BJ,Schwabe W,Kioschis P,Coy JF,Poustka A,Brennan MB,Hochgeschwender U

更新日期：1994-11-01 00:00:00

abstract：:To understand the cause of Parkinson's disease (PD), it is important to determine the functional interactions between factors linked to the disease. Parkin is associated with autosomal recessive early-onset PD, and controls the transcription of PGC-1α, a master regulator of mitochondrial biogenesis. These two factors ...

journal_title：Human molecular genetics

authors： Zheng L,Bernard-Marissal N,Moullan N,D'Amico D,Auwerx J,Moore DJ,Knott G,Aebischer P,Schneider BL

更新日期：2017-02-01 00:00:00

abstract：:X-linked juvenile retinoschisis (XLRS) is an early-onset inherited condition that affects primarily males and is characterized by cystic lesions of the inner retina, decreased visual acuity and contrast sensitivity and a selective reduction of the electroretinogram (ERG) b-wave. Although XLRS is genetically heterogene...

journal_title：Human molecular genetics

authors： Liu Y,Kinoshita J,Ivanova E,Sun D,Li H,Liao T,Cao J,Bell BA,Wang JM,Tang Y,Brydges S,Peachey NS,Sagdullaev BT,Romano C

更新日期：2019-09-15 00:00:00

abstract：:Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant disease caused by mutations in the gene encoding protein kinase C gamma (PKC gamma). We report an SCA14 family with a novel deletion of a termination-codon-containing region, resulting in a missense change and a C-terminal 13-amino-acid extension with inc...

journal_title：Human molecular genetics

authors： Asai H,Hirano M,Shimada K,Kiriyama T,Furiya Y,Ikeda M,Iwamoto T,Mori T,Nishinaka K,Konishi N,Udaka F,Ueno S

更新日期：2009-10-01 00:00:00

abstract：:Muscle-eye-brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps substantially with those of Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndro...

journal_title：Human molecular genetics

authors： Taniguchi K,Kobayashi K,Saito K,Yamanouchi H,Ohnuma A,Hayashi YK,Manya H,Jin DK,Lee M,Parano E,Falsaperla R,Pavone P,Van Coster R,Talim B,Steinbrecher A,Straub V,Nishino I,Topaloglu H,Voit T,Endo T,Toda T

更新日期：2003-03-01 00:00:00

abstract：:Costello syndrome (CS) is a developmental disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, mental retardation and skin and musculo-skeletal defects. CS is caused by HRAS germline mutations. In the majority of cases, mutations affect Gly(12) and Gly(13) and are associated with a ...

journal_title：Human molecular genetics

authors： Gremer L,De Luca A,Merbitz-Zahradnik T,Dallapiccola B,Morlot S,Tartaglia M,Kutsche K,Ahmadian MR,Rosenberger G

更新日期：2010-03-01 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：:Mutations in PTEN-induced putative kinase 1 (PINK1) or parkin cause autosomal recessive forms of Parkinson disease (PD), but how these mutations trigger neurodegeneration is poorly understood and the exact functional relationship between PINK1 and parkin remains unclear. Here, we report that PINK1 regulates the E3 ubi...

journal_title：Human molecular genetics

authors： Sha D,Chin LS,Li L

更新日期：2010-01-15 00:00:00

abstract：:Genome-wide association studies of colorectal cancer (CRC) have identified a number of common variants associated with modest risk, including rs3802842 at chromosome 11q23.1. Several genes map to this region but rs3802842 does not map to any known transcribed or regulatory sequences. We reasoned, therefore, that rs380...

journal_title：Human molecular genetics

authors： Biancolella M,Fortini BK,Tring S,Plummer SJ,Mendoza-Fandino GA,Hartiala J,Hitchler MJ,Yan C,Schumacher FR,Conti DV,Edlund CK,Noushmehr H,Coetzee SG,Bresalier RS,Ahnen DJ,Barry EL,Berman BP,Rice JC,Coetzee GA,Casey G

更新日期：2014-04-15 00:00:00

abstract：:Many congenital myasthenic syndromes (CMS) are associated with mutations in the genes encoding the acetylcholine receptor (AChR), an oligomeric protein with the structure alpha(2)betadelta epsilon. AChR deficiency is frequently due to homozygous or heteroallelic mutations in the AChR epsilon subunit, most of which cau...

journal_title：Human molecular genetics

authors： Ealing J,Webster R,Brownlow S,Abdelgany A,Oosterhuis H,Muntoni F,Vaux DJ,Vincent A,Beeson D

更新日期：2002-11-15 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：: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：:We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.G...

journal_title：Human molecular genetics

authors： Hardies K,May P,Djémié T,Tarta-Arsene O,Deconinck T,Craiu D,AR working group of the EuroEPINOMICS RES Consortium.,Helbig I,Suls A,Balling R,Weckhuysen S,De Jonghe P,Hirst J

更新日期：2015-04-15 00:00:00

abstract：:An infant presented with fatal infantile lactic acidosis and cardiomyopathy, and was found to have profoundly decreased activity of respiratory chain complex I in muscle, heart and liver. Exome sequencing revealed compound heterozygous mutations in NDUFB10, which encodes an accessory subunit located within the PD part...

journal_title：Human molecular genetics

authors： Friederich MW,Erdogan AJ,Coughlin CR 2nd,Elos MT,Jiang H,O'Rourke CP,Lovell MA,Wartchow E,Gowan K,Chatfield KC,Chick WS,Spector EB,Van Hove JLK,Riemer J

更新日期：2017-02-15 00:00:00

abstract：:Selenoprotein N (SelN) deficiency causes a group of inherited neuromuscular disorders termed SEPN1-related myopathies (SEPN1-RM). Although the function of SelN remains unknown, recent data demonstrated that it is dispensable for mouse embryogenesis and suggested its involvement in the regulation of ryanodine receptors...

journal_title：Human molecular genetics

authors： Castets P,Bertrand AT,Beuvin M,Ferry A,Le Grand F,Castets M,Chazot G,Rederstorff M,Krol A,Lescure A,Romero NB,Guicheney P,Allamand V

更新日期：2011-02-15 00:00:00

abstract：:Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading to the blinding retinal degeneration in USH is uncertain. There is evidence for involvement of the photoreceptor cilium, photoreceptor synapse, the adjacent retinal pigment epithelium (RPE)...

journal_title：Human molecular genetics

authors： Jacobson SG,Cideciyan AV,Aleman TS,Sumaroka A,Roman AJ,Gardner LM,Prosser HM,Mishra M,Bech-Hansen NT,Herrera W,Schwartz SB,Liu XZ,Kimberling WJ,Steel KP,Williams DS

更新日期：2008-08-01 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：:A genetic contribution to the development of age-related macular degeneration (AMD) is well established. Several genome-wide linkage studies have identified a number of putative susceptibility loci for AMD but only a few of these regions have been replicated in independent studies. Here, we perform a meta-analysis of ...

journal_title：Human molecular genetics

authors： Fisher SA,Abecasis GR,Yashar BM,Zareparsi S,Swaroop A,Iyengar SK,Klein BE,Klein R,Lee KE,Majewski J,Schultz DW,Klein ML,Seddon JM,Santangelo SL,Weeks DE,Conley YP,Mah TS,Schmidt S,Haines JL,Pericak-Vance MA,Gorin

更新日期：2005-08-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disease characterized by the loss of motor neurons. Motor neuron degeneration is probably both a cell autonomous and a non-autonomous event. Therefore, manipulating the diseased microenvironment via non-neural cell replacement could be a th...

journal_title：Human molecular genetics

authors： Corti S,Nizzardo M,Nardini M,Donadoni C,Salani S,Simone C,Falcone M,Riboldi G,Govoni A,Bresolin N,Comi GP

更新日期：2010-10-01 00:00:00

abstract：:Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy that results from small expansions of a polyalanine tract in the PABPN1 gene. Intranuclear inclusions are the pathological hallmark of OPMD. The mechanism by which protein aggregation in OPMD might relate to a toxic gain-of...

journal_title：Human molecular genetics

authors： Abu-Baker A,Messaed C,Laganiere J,Gaspar C,Brais B,Rouleau GA

更新日期：2003-10-15 00:00:00

abstract：:Autism is a heterogeneous condition that is likely to result from the combined effects of multiple genetic factors interacting with environmental factors. Given its complexity, the study of autism associated with Mendelian single gene disorders or known chromosomal etiologies provides an important perspective. We used...

journal_title：Human molecular genetics

authors： Nishimura Y,Martin CL,Vazquez-Lopez A,Spence SJ,Alvarez-Retuerto AI,Sigman M,Steindler C,Pellegrini S,Schanen NC,Warren ST,Geschwind DH

更新日期：2007-07-15 00:00:00

abstract：:Multiple mitochondrial DNA deletions are associated with clinically heterogeneous disorders transmitted as mendelian traits. Dominant missense mutations were found in the gene encoding the heart and skeletal muscle-specific isoform of the adenine nucleotide translocator (ANT1) in families with autosomal dominant progr...

journal_title：Human molecular genetics

authors： Palmieri L,Alberio S,Pisano I,Lodi T,Meznaric-Petrusa M,Zidar J,Santoro A,Scarcia P,Fontanesi F,Lamantea E,Ferrero I,Zeviani M

更新日期：2005-10-15 00:00:00

abstract：:Cornelia de Lange syndrome (CdLS), which is reported to affect ∼1 in 10 000 to 30 000 newborns, is a multisystem organ developmental disorder with relatively mild to severe effects. Among others, intellectual disability represents an important feature of this condition. CdLS can result from mutations in at least five ...

journal_title：Human molecular genetics

authors： Bottai D,Spreafico M,Pistocchi A,Fazio G,Adami R,Grazioli P,Canu A,Bragato C,Rigamonti S,Parodi C,Cazzaniga G,Biondi A,Cotelli F,Selicorni A,Massa V

更新日期：2019-01-01 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：:An improved understanding of the expression of the cystic fibrosis gene (CFTR) will assist our approach to preventing the organ damage caused by cystic fibrosis (CF). We have studied the expression of CFTR in human fetal tissues at different gestational ages using in situ hybridization to detect CFTR mRNA. CFTR was pr...

journal_title：Human molecular genetics

authors： Tizzano EF,Chitayat D,Buchwald M

更新日期：1993-03-01 00:00:00

abstract：:Mutations in PARK8, encoding leucine-rich repeat kinase 2 (LRRK2), are a frequent cause of Parkinson's disease (PD). Nonetheless, the physiological role of LRRK2 remains unclear. Here, we demonstrate that LRRK2 participates in canonical Wnt signaling as a scaffold. LRRK2 interacts with key Wnt signaling proteins of th...

journal_title：Human molecular genetics

authors： Berwick DC,Harvey K

更新日期：2012-11-15 00:00:00

abstract：:Paraoxonase is an arylesterase enzyme that is expressed in the liver and found in the circulation in association with apoA1 and the high-density lipoprotein, and prevents the accumulation of oxidized lipids in low-density lipoproteins in vitro. Common polymorphisms in genes encoding paraoxonase are established risk fa...

journal_title：Human molecular genetics

authors： Erlich PM,Lunetta KL,Cupples LA,Huyck M,Green RC,Baldwin CT,Farrer LA,MIRAGE Study Group.

更新日期：2006-01-01 00:00:00

abstract：:Fragile X syndrome, the most common form of inherited mental retardation, is caused by the loss of the fragile X mental retardation protein (FMRP). FMRP is a ubiquitously expressed, multi-domain RNA-binding protein, but its in vivo function remains poorly understood. Recent studies have shown that FMRP participates in...

journal_title：Human molecular genetics

authors： Liu W,Jiang F,Bi X,Zhang YQ

更新日期：2012-11-01 00:00:00