Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV.

abstract：:Hand-Foot-Genital syndrome is a rare condition caused by mutations in the HOXA13 gene and characterized by limb malformations and urogenital defects. While the role of Hoxa13 in limb development has been extensively studied, its function during the development of the urogenital system remains elusive mostly due to the...

journal_title：Human molecular genetics

authors： Roux M,Bouchard M,Kmita M

更新日期：2019-05-15 00:00:00

abstract：:The near completeness of human chromosome sequences is facilitating accurate characterization and assessment of all classes of genomic variation. Particularly, using the DNA reference sequence as a guide, genome scanning technologies, such as microarray-based comparative genomic hybridization (array CGH) and genome-wi...

journal_title：Human molecular genetics

authors： Feuk L,Marshall CR,Wintle RF,Scherer SW

更新日期：2006-04-15 00:00:00

abstract：:Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting in a loss of a ubiquitously expressed protein, gigaxonin. Gene replacement therapy is a promising strategy for treatment of the disease; however, the effectiveness and safety of gi...

journal_title：Human molecular genetics

authors： Johnson-Kerner BL,Ahmad FS,Diaz AG,Greene JP,Gray SJ,Samulski RJ,Chung WK,Van Coster R,Maertens P,Noggle SA,Henderson CE,Wichterle H

更新日期：2015-03-01 00:00:00

abstract：:KDM6B/JMJD3 is a histone H3 lysine demethylase with an important gene regulatory role in development and physiology. Here, we show that human JMJD3 expression is induced by the active vitamin D metabolite 1α,25-dihydroxyvitamin D(3) (1,25(OH)(2)D(3)) and that JMJD3 modulates the gene regulatory action of this hormone....

journal_title：Human molecular genetics

authors： Pereira F,Barbáchano A,Silva J,Bonilla F,Campbell MJ,Muñoz A,Larriba MJ

更新日期：2011-12-01 00:00:00

abstract：:Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from ...

journal_title：Human molecular genetics

authors： Spritz RA

更新日期：1994-01-01 00:00:00

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：:Dilated cardiomyopathy (DCM) due to mutations in RBM20, a gene encoding an RNA-binding protein, is associated with high familial penetrance, risk of progressive heart failure and sudden death. Although genetic investigations and physiological models have established the linkage of RBM20 with early-onset DCM, the under...

journal_title：Human molecular genetics

authors： Beraldi R,Li X,Martinez Fernandez A,Reyes S,Secreto F,Terzic A,Olson TM,Nelson TJ

更新日期：2014-07-15 00:00:00

abstract：:Mutations in genes encoding the epsilon, delta, beta and alpha subunits of the end plate acetylcholine (ACh) receptor (AChR) are described and functionally characterized in three slow-channel congenital myasthenic syndrome patients. All three had prolonged end plate currents and AChR channel opening episodes and an en...

journal_title：Human molecular genetics

authors： Engel AG,Ohno K,Milone M,Wang HL,Nakano S,Bouzat C,Pruitt JN 2nd,Hutchinson DO,Brengman JM,Bren N,Sieb JP,Sine SM

更新日期：1996-09-01 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：:Multiple research groups have observed neuropathological phenotypes and molecular symptoms in vitro using induced pluripotent stem cell (iPSC)-derived neural cell cultures (i.e. patient-specific neurons and glia). However, the global differences/similarities that may exist between in vitro neural cells and their tissu...

journal_title：Human molecular genetics

authors： Hjelm BE,Salhia B,Kurdoglu A,Szelinger S,Reiman RA,Sue LI,Beach TG,Huentelman MJ,Craig DW

更新日期：2013-09-01 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：:PAX genes encode nuclear transcription factors which are rapidly becoming regarded as major controllers of developmental processes in both vertebrates and invertebrates. Mutations in murine Pax genes underlie three natural mouse alleles and two corresponding human syndromes. Murine Pax genes have been shown to be prot...

journal_title：Human molecular genetics

authors： Stuart ET,Gruss P

更新日期：1995-01-01 00:00:00

abstract：:We recently reported increased mitochondrial fission and decreased fusion, increased amyloid beta (Aβ) interaction with the mitochondrial fission protein Drp1, increased mitochondrial fragmentation, impaired axonal transport of mitochondria and synaptic degeneration in neurons affected by AD. In the present study, we ...

journal_title：Human molecular genetics

authors： Manczak M,Reddy PH

更新日期：2012-06-01 00:00:00

abstract：:Grb10-Interacting GYF Protein 2 (GIGYF2) was initially identified through its interaction with Grb10, an adapter protein that binds activated IGF-I and insulin receptors. The GIGYF2 gene maps to human chromosome 2q37 within a region linked to familial Parkinson's disease (PARK11 locus), and association of GIGYF2 mutat...

journal_title：Human molecular genetics

authors： Giovannone B,Tsiaras WG,de la Monte S,Klysik J,Lautier C,Karashchuk G,Goldwurm S,Smith RJ

更新日期：2009-12-01 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：: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：: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：:The members of the huntingtin-interacting protein-1 (HIP1) family, HIP1 and HIP1-related (HIP1r), are multi-domain proteins that interact with inositol lipids, clathrin and actin. HIP1 is over-expressed in a variety of cancers and both HIP1 and HIP1r prolong the half-life of multiple growth factor receptors. To better...

journal_title：Human molecular genetics

authors： Bradley SV,Hyun TS,Oravecz-Wilson KI,Li L,Waldorff EI,Ermilov AN,Goldstein SA,Zhang CX,Drubin DG,Varela K,Parlow A,Dlugosz AA,Ross TS

更新日期：2007-06-01 00:00:00

abstract：:We recently described two opposing states of transcriptional competency. One is termed 'competent' whereby a gene is capable of responding to trans-acting transcription factors of the cell, such that it is active if appropriate transcriptional activators are present, though it can also be silent if activators are abse...

journal_title：Human molecular genetics

authors： Lee JH,Gaetz J,Bugarija B,Fernandes CJ,Snyder GE,Bush EC,Lahn BT

更新日期：2009-07-15 00:00:00

abstract：:Lafora progressive myoclonus epilepsy, caused by defective laforin or malin, insidiously present in normal teenagers with cognitive decline, followed by rapidly intractable epilepsy, dementia and death. Pathology reveals neurodegeneration with neurofibrillary tangle formation and Lafora bodies (LBs). LBs are deposits ...

journal_title：Human molecular genetics

authors： Lohi H,Ianzano L,Zhao XC,Chan EM,Turnbull J,Scherer SW,Ackerley CA,Minassian BA

更新日期：2005-09-15 00:00:00

abstract：:Fragile X syndrome (FXS), a common inherited form of intellectual disability with learning deficits, results from a loss of fragile X mental retardation protein (FMRP). Despite extensive research, treatment options for FXS remain limited. Since FMRP is known to play an important role in adult hippocampal neurogenesis ...

journal_title：Human molecular genetics

authors： Guo W,Murthy AC,Zhang L,Johnson EB,Schaller EG,Allan AM,Zhao X

更新日期：2012-02-01 00:00:00

abstract：:A functional genetic screen using loss-of-function and gain-of-function alleles was performed to identify modifiers of tau-induced neurotoxicity using the 2N/4R (full-length) isoform of wild-type human tau expressed in the fly retina. We previously reported eye pigment mutations, which create dysfunctional lysosomes, ...

journal_title：Human molecular genetics

authors： Ambegaokar SS,Jackson GR

更新日期：2011-12-15 00:00:00

abstract：:The transient receptor potential vanilloid 1 (TRPV1) protein is a pain receptor that elicits a hot sensation when an organism eats the capsaicin of red chili peppers. This calcium (Ca2+)-permeable cation channel is mostly expressed in the peripheral nervous system sensory neurons but also in the central nervous system...

journal_title：Human molecular genetics

authors： Kim J,Lee S,Kim J,Ham S,Park JHY,Han S,Jung YK,Shim I,Han JS,Lee KW,Kim J

更新日期：2020-01-15 00:00:00

abstract：:Huntington's disease (HD) is an inherited neurodegenerative disorder caused by the expansion of a CAG repeat in a gene coding for a protein of unknown function. We have raised a polyclonal antibody against a 12 amino acid peptide (residues 2110-2121 of human huntingtin) which specifically recognises huntingtin on West...

journal_title：Human molecular genetics

authors： Wood JD,MacMillan JC,Harper PS,Lowenstein PR,Jones AL

更新日期：1996-04-01 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：:Haploinsufficiency of the single-minded homology 1 (SIM1) gene in humans and mice leads to severe obesity, suggesting that altered expression of SIM1, by way of regulatory elements such as enhancers, could predispose individuals to obesity. Here, we identified transcriptional enhancers that could regulate SIM1, using ...

journal_title：Human molecular genetics

authors： Kim MJ,Oksenberg N,Hoffmann TJ,Vaisse C,Ahituv N

更新日期：2014-04-01 00:00:00

abstract：:TNNI3K expression worsens disease progression in several mouse heart pathology models. TNNI3K expression also reduces the number of diploid cardiomyocytes, which may be detrimental to adult heart regeneration. However, the gene is evolutionarily conserved, suggesting a beneficial function that has remained obscure. He...

journal_title：Human molecular genetics

authors： Gan P,Baicu C,Watanabe H,Wang K,Tao G,Judge DP,Zile MR,Makita T,Mukherjee R,Sucov HM

更新日期：2021-01-06 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is a common genetic disorder affecting 1 in 3500 individuals. Patients with NF1 are predisposed to debilitating skeletal manifestations, including osteopenia/osteoporosis and long bone pseudarthrosis (nonunion fracture). Hyperactivation of the Ras/mitogen-activated protein kinase (MAPK) ...

journal_title：Human molecular genetics

authors： Sharma R,Wu X,Rhodes SD,Chen S,He Y,Yuan J,Li J,Yang X,Li X,Jiang L,Kim ET,Stevenson DA,Viskochil D,Xu M,Yang FC

更新日期：2013-12-01 00:00:00

abstract：:Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis pigmentosa, a form of hereditary blindness. By using different fragments of this protein as baits to screen cDNA libraries of human and bovine retinas, we defined a yeast two-hybrid-based FAM161A i...

journal_title：Human molecular genetics

authors： Di Gioia SA,Farinelli P,Letteboer SJ,Arsenijevic Y,Sharon D,Roepman R,Rivolta C

更新日期：2015-06-15 00:00:00

abstract：:Losing of ovarian functions prior to natural menopause age causes female infertility and early menopause. Premature ovarian insufficiency (POI) is defined as the loss of ovarian activity before 40 years of age. Known genetic causes account for 25-30% of POI cases, demonstrating the high genetic heterogeneity of POI an...

journal_title：Human molecular genetics

authors： Chen Q,Ke H,Luo X,Wang L,Wu Y,Tang S,Li J,Jin L,Zhang F,Qin Y,Chen X

更新日期：2020-09-29 00:00:00