LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6.

abstract：:The hippocampus has a highly ordered structure and is composed of distinct layers. Neuronal migration is an essential part of the process of the layer formation because neurons are primarily generated near the ventricle and must migrate to arrive at their final locations during brain development. Impairment of brain d...

journal_title：Human molecular genetics

authors： Tomita K,Kubo K,Ishii K,Nakajima K

更新日期：2011-07-15 00:00:00

abstract：:Lung cancer is the leading cause of cancer death in North America. Despite advances in lung cancer treatment, the overall 5 year survival rate for those diagnosed with the disease is bleak presumably due to the late stage of diagnosis. Owing to the difficulty of early detection, preneoplastic specimens are rare. Howev...

journal_title：Human molecular genetics

authors： Garnis C,Campbell J,Davies JJ,Macaulay C,Lam S,Lam WL

更新日期：2005-02-15 00:00:00

abstract：:Genetic variants in one-carbon folate metabolism have been identified as risk factors for disease because they may impair the production or use of one-carbon folates required for nucleotide synthesis and methylation. p.R653Q (1958G>A) is a single-nucleotide polymorphism (SNP) in the 10-formyltetrahydrofolate (formylTH...

journal_title：Human molecular genetics

authors： Christensen KE,Deng L,Leung KY,Arning E,Bottiglieri T,Malysheva OV,Caudill MA,Krupenko NI,Greene ND,Jerome-Majewska L,MacKenzie RE,Rozen R

更新日期：2013-09-15 00:00:00

abstract：:Manipulation of the mouse genome by site-specific mutagenesis has been extensively used to study gene function and model human disorders. Mouse models of myotubular myopathy (XLMTM), a severe congenital muscular disorder due to loss-of-function mutations in the MTM1 gene, have been generated by homologous recombinatio...

journal_title：Human molecular genetics

authors： Joubert R,Vignaud A,Le M,Moal C,Messaddeq N,Buj-Bello A

更新日期：2013-05-01 00:00:00

abstract：:Huntington's disease (HD) is a dominantly inherited genetic disease caused by mutant huntingtin (htt) protein with expanded polyglutamine (polyQ) tracts. A neuropathological hallmark of HD is the presence of neuronal inclusions of mutant htt. p62 is an important regulatory protein in selective autophagy, a process by ...

journal_title：Human molecular genetics

authors： Kurosawa M,Matsumoto G,Kino Y,Okuno M,Kurosawa-Yamada M,Washizu C,Taniguchi H,Nakaso K,Yanagawa T,Warabi E,Shimogori T,Sakurai T,Hattori N,Nukina N

更新日期：2015-02-15 00:00:00

abstract：:Leukocyte telomere length (LTL) might be causal in cardiovascular disease and major cancers. To elucidate the roles of genetics and geography in LTL variability across humans, we compared LTL measured in 1295 sub-Saharan Africans (SSAs) with 559 African-Americans (AAms) and 2464 European-Americans (EAms). LTL differed...

journal_title：Human molecular genetics

authors： Hunt SC,Hansen MEB,Verhulst S,McQuillan MA,Beggs W,Lai TP,Mokone GG,Mpoloka SW,Meskel DW,Belay G,Nyambo TB,Abnet CC,Yeager M,Chanock SJ,Province MA,Williams SM,Aviv A,Tishkoff SA

更新日期：2020-11-04 00:00:00

abstract：:The gene encoding the gamma chain of the lymphocyte interleukin-2 receptor has been cloned and shown to be required to associate with the beta chain in order for IL-2 internalization and cell activation to occur (1). We considered this gene, IL2RG, a candidate for the X-linked form of severe combined immunodeficiency ...

journal_title：Human molecular genetics

authors： Puck JM,Deschênes SM,Porter JC,Dutra AS,Brown CJ,Willard HF,Henthorn PS

更新日期：1993-08-01 00:00:00

abstract：:Two common inflammatory skin disorders with impaired barrier, atopic dermatitis (AD) and psoriasis, share distinct genetic linkage to the Epidermal Differentiation Complex (EDC) locus on 1q21. The EDC is comprised of tandemly arrayed gene families encoding proteins involved in skin cell differentiation. Discovery of s...

journal_title：Human molecular genetics

authors： de Guzman Strong C,Conlan S,Deming CB,Cheng J,Sears KE,Segre JA

更新日期：2010-04-15 00:00:00

abstract：:Bitter taste perception is initiated by TAS2R receptors, which respond to agonists by triggering depolarization of taste bud cells. Mutations in TAS2Rs are known to affect taste phenotypes by altering receptor function. Evidence that TAS2Rs overlap in ligand specificity suggests that they may also contribute joint eff...

journal_title：Human molecular genetics

authors： Roudnitzky N,Bufe B,Thalmann S,Kuhn C,Gunn HC,Xing C,Crider BP,Behrens M,Meyerhof W,Wooding SP

更新日期：2011-09-01 00:00:00

abstract：:Huntington's disease (HD) is caused by a pathological expansion of a CAG repeat in the first exon of the gene coding for huntingtin, resulting in an abnormally long polyglutamine stretch. Despite its widespread expression, mutant huntingtin leads to selective neuronal loss in the striatum and cortex. Here we report th...

journal_title：Human molecular genetics

authors： Modregger J,DiProspero NA,Charles V,Tagle DA,Plomann M

更新日期：2002-10-01 00:00:00

abstract：:Congenital nephrotic syndrome of the Finnish type (CNF or NPHS1) is an autosomal recessive kidney disorder resulting in severe proteinurea and renal dysfunction. Although the disease occurs predominantly in the Finnish population, many cases in other populations have also been reported. The disease gene (NPHS1) encode...

journal_title：Human molecular genetics

authors： Liu L,Doné SC,Khoshnoodi J,Bertorello A,Wartiovaara J,Berggren PO,Tryggvason K

更新日期：2001-11-01 00:00:00

abstract：:Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS) and has recently been implicated in additional skeletal malformations frequently observed in Turner syndrome. To enhance our understanding of the underlying mechanism of action, we have establ...

journal_title：Human molecular genetics

authors： Rao E,Blaschke RJ,Marchini A,Niesler B,Burnett M,Rappold GA

更新日期：2001-12-15 00:00:00

abstract：:CDH3/P-cadherin is a classical cadherin. Overexpression of which has been associated with proliferative lesions of high histological grade, decreased cell polarity and poor survival of patients with breast cancer. In vitro studies showed that it can be up-regulated by ICI 182,780, suggesting that the lack of ERalpha s...

journal_title：Human molecular genetics

authors： Albergaria A,Ribeiro AS,Pinho S,Milanezi F,Carneiro V,Sousa B,Sousa S,Oliveira C,Machado JC,Seruca R,Paredes J,Schmitt F

更新日期：2010-07-01 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：:The first 17 amino acids of Huntington's disease (HD) protein, huntingtin, comprise an amphipathic alpha-helical domain that can target huntingtin to the endoplasmic reticulum (ER). N17 is phosphorylated at two serines, shown to be important for disease development in genetic mouse models, and shown to be modified by ...

journal_title：Human molecular genetics

authors： Maiuri T,Woloshansky T,Xia J,Truant R

更新日期：2013-04-01 00:00:00

abstract：:The diastrophic dysplasia sulfate transporter (DTDST) gene encodes a transmembrane protein that transports sulfate into chondrocytes to maintain adequate sulfation of proteoglycans. Mutations in this gene are responsible for four recessively inherited chondrodysplasias that include diastrophic dysplasia, multiple epip...

journal_title：Human molecular genetics

authors： Karniski LP

更新日期：2001-07-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismutation of the superoxide...

journal_title：Human molecular genetics

authors： Al-Chalabi A,Andersen PM,Chioza B,Shaw C,Sham PC,Robberecht W,Matthijs G,Camu W,Marklund SL,Forsgren L,Rouleau G,Laing NG,Hurse PV,Siddique T,Leigh PN,Powell JF

更新日期：1998-12-01 00:00:00

abstract：:Paroxysmal kinesigenic dyskinesia (PKD) is a heterogeneous movement disorder characterized by recurrent dyskinesia attacks triggered by sudden movement. PRRT2 has been identified as the first causative gene of PKD. However, it is only responsible for approximately half of affected individuals, indicating that other lo...

journal_title：Human molecular genetics

authors： Yin XM,Lin JH,Cao L,Zhang TM,Zeng S,Zhang KL,Tian WT,Hu ZM,Li N,Wang JL,Guo JF,Wang RX,Xia K,Zhang ZH,Yin F,Peng J,Liao WP,Yi YH,Liu JY,Yang ZX,Chen Z,Mao X,Yan XX,Jiang H,Shen L,Chen SD,Zhang LM,Tan

更新日期：2018-02-15 00:00:00

abstract：:An association between the 19q13.2 chromosomal region and Alzheimer's disease (AD) has been reported in AD families and for sporadic AD. Recent observations provide evidence that the epsilon 4 allele of the apolipoprotein E gene (APOE), located in this region, is a risk factor for late-onset AD. Within this region, ot...

journal_title：Human molecular genetics

authors： Chartier-Harlin MC,Parfitt M,Legrain S,Pérez-Tur J,Brousseau T,Evans A,Berr C,Vidal O,Roques P,Gourlet V

更新日期：1994-04-01 00:00:00

abstract：:A randomization procedure to evaluate the significance level and the false-discovery rate in complex microarray experiments is proposed. A related graph can be used to compare different test statistics that can be used to analyze the same experiment. This graph is closely related to receiver operator characteristic (R...

journal_title：Human molecular genetics

authors： Kooperberg C,Sipione S,LeBlanc M,Strand AD,Cattaneo E,Olson JM

更新日期：2002-09-15 00:00:00

abstract：:Gaucher disease, a prevalent lysosomal storage disease (LSD), is caused by insufficient activity of acid β-glucosidase (GCase) and the resultant glucosylceramide (GC)/glucosylsphingosine (GS) accumulation in visceral organs (Type 1) and the central nervous system (Types 2 and 3). Recent clinical and genetic studies im...

journal_title：Human molecular genetics

authors： Xu YH,Xu K,Sun Y,Liou B,Quinn B,Li RH,Xue L,Zhang W,Setchell KD,Witte D,Grabowski GA

更新日期：2014-08-01 00:00:00

abstract：:Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for >70% of X-linked retinitis pigmentosa (XLRP) and 15-20% of all inherited retinal degeneration. Gene replacement therapy for RPGR-XLRP was hampered by the relatively slow disease progression in mouse models and by difficulties in cloning the...

journal_title：Human molecular genetics

authors： Wu Z,Hiriyanna S,Qian H,Mookherjee S,Campos MM,Gao C,Fariss R,Sieving PA,Li T,Colosi P,Swaroop A

更新日期：2015-07-15 00:00:00

abstract：:Somatic and germline mutations in PTEN (phosphatase and tensin homolog deleted on chromosome 10) are found in sporadic cancers and Cowden syndrome patients, respectively. Recent identification of naturally occurring cancer and germline mutations within the ATP-binding motifs of PTEN (heretofore referred to as PTEN ATP...

journal_title：Human molecular genetics

authors： He X,Ni Y,Wang Y,Romigh T,Eng C

更新日期：2011-01-01 00:00:00

abstract：:Schwann cells are the myelinating glia of the peripheral nervous system and dysfunction of these cells causes motor and sensory peripheral neuropathy. The transcription factor SOX10 is critical for Schwann cell development and maintenance, and many SOX10 target genes encode proteins required for Schwann cell function....

journal_title：Human molecular genetics

authors： Fogarty EA,Brewer MH,Rodriguez-Molina JF,Law WD,Ma KH,Steinberg NM,Svaren J,Antonellis A

更新日期：2016-09-15 00:00:00

abstract：:CUL4A and CUL4B are closely related cullin family members and can each assemble a Cullin-RING E3 ligase complex (CRL) and participate in a variety of biological processes. While the CRLs formed by the two cullin members may have common targets, the two appeared to have very different consequences when mutated or disru...

journal_title：Human molecular genetics

authors： Zhao X,Jiang B,Hu H,Mao F,Mi J,Li Z,Liu Q,Shao C,Gong Y

更新日期：2015-02-01 00:00:00

abstract：:Development of neural circuitry depends on the integration of signaling pathways to coordinate specification, proliferation and differentiation of cell types in the right number, in the right place, at the right time. Zinc finger protein 423 (Zfp423), a 30-zinc finger transcription factor, forms alternate complexes wi...

journal_title：Human molecular genetics

authors： Alcaraz WA,Chen E,Valdes P,Kim E,Lo YH,Vo J,Hamilton BA

更新日期：2011-10-01 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in either of two genes, TSC1 or TSC2, resulting in the constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1). mTOR inhibitors are now considered the treatment of choice for TSC disease. A major path...

journal_title：Human molecular genetics

authors： Magini A,Polchi A,Di Meo D,Mariucci G,Sagini K,De Marco F,Cassano T,Giovagnoli S,Dolcetta D,Emiliani C

更新日期：2017-09-01 00:00:00

abstract：:Mutations of thymidine kinase 2 (TK2), an essential component of the mitochondrial nucleotide salvage pathway, can give rise to mitochondrial DNA (mtDNA) depletion syndromes (MDS). These clinically heterogeneous disorders are characterized by severe reduction in mtDNA copy number in affected tissues and are associated...

journal_title：Human molecular genetics

authors： Bartesaghi S,Betts-Henderson J,Cain K,Dinsdale D,Zhou X,Karlsson A,Salomoni P,Nicotera P

更新日期：2010-05-01 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：:Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic syndrome presenting in early life, Finnish type congenital nephrotic syndrome (CNF) and a form of autosomal recessive familial focal segmental glomerulosclerosis (SRN1), respectively. To inves...

journal_title：Human molecular genetics

authors： Koziell A,Grech V,Hussain S,Lee G,Lenkkeri U,Tryggvason K,Scambler P

更新日期：2002-02-15 00:00:00