Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy.

abstract：:Detailed knowledge of linkage disequilibrium (LD) is regarded as a prerequisite for population-based disease gene mapping. Variable patterns across the human genome are now recognized, both between regions and populations. Here, we demonstrate that LD may also vary within a genomic region in a haplotype-specific manne...

journal_title：Human molecular genetics

authors： Ahmad T,Neville M,Marshall SE,Armuzzi A,Mulcahy-Hawes K,Crawshaw J,Sato H,Ling KL,Barnardo M,Goldthorpe S,Walton R,Bunce M,Jewell DP,Welsh KI

更新日期：2003-03-15 00:00:00

abstract：:Genomic imprinting is the phenomenon whereby mono-allelic expression of certain genes occurs depending on their parental origin. The observation that imprinting only occurs in placental mammals has led to the suggestion that it may play a role in this form of reproduction. In the present study we have investigated the...

journal_title：Human molecular genetics

authors： Hiby SE,Lough M,Keverne EB,Surani MA,Loke YW,King A

更新日期：2001-05-01 00:00:00

abstract：:Pathogenic leucine-rich repeat kinase 2 (LRRK2) mutations are recognized as the most common cause of familial Parkinson's disease in certain populations. Recently, LRRK2 mutations were shown to be associated with a higher risk of hormone-related cancers. However, how LRRK2 itself contributes to cancer risk remains unk...

journal_title：Human molecular genetics

authors： Chen Z,Cao Z,Zhang W,Gu M,Zhou ZD,Li B,Li J,Tan EK,Zeng L

更新日期：2017-11-15 00:00:00

abstract：:An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Repeat-associated non-AUG (RAN) translation of G4C2 RNA can result in five different dipeptide repeat proteins (DPR: poly GA, poly GP, poly GR, ...

journal_title：Human molecular genetics

authors： Lee YB,Baskaran P,Gomez-Deza J,Chen HJ,Nishimura AL,Smith BN,Troakes C,Adachi Y,Stepto A,Petrucelli L,Gallo JM,Hirth F,Rogelj B,Guthrie S,Shaw CE

更新日期：2017-12-15 00:00:00

abstract：:Fanconi anaemia (FA) is an autosomal recessive genetic disorder characterized by progressive bone marrow failure, multiple congenital abnormalities, and an increased risk of cancer. FA cells are characterized by chromosomal instability and hypersensitivity to DNA interstrand crosslinking agents. At least eight complem...

journal_title：Human molecular genetics

authors： Hussain S,Witt E,Huber PA,Medhurst AL,Ashworth A,Mathew CG

更新日期：2003-10-01 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：:There has been substantial progress in psychiatric genetics in recent years, through collaborative efforts to build large samples sizes for case/control analyses for a number of psychiatric disorders. The identification of replicated trait-associated genomic loci represents a large stride forward in a field where litt...

journal_title：Human molecular genetics

authors： Hodgson K,McGuffin P,Lewis CM

更新日期：2017-10-01 00:00:00

abstract：:Peroxisome biogenesis disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease, are lethal hereditary diseases caused by abnormalities in peroxisomal assembly. To date, 12 genotypes have been identified. We now have evidence that the complete human cDNA encoding P...

journal_title：Human molecular genetics

authors： Shimozawa N,Suzuki Y,Zhang Z,Imamura A,Toyama R,Mukai S,Fujiki Y,Tsukamoto T,Osumi T,Orii T,Wanders RJ,Kondo N

更新日期：1999-06-01 00:00:00

abstract：:Monozygotic twin and other epidemiologic studies indicate that epigenetic processes may play an important role in the pathogenesis of inflammatory bowel diseases that commonly affect the colonic mucosa. The peak onset of these disorders in young adulthood suggests that epigenetic changes normally occurring in the colo...

journal_title：Human molecular genetics

authors： Kellermayer R,Balasa A,Zhang W,Lee S,Mirza S,Chakravarty A,Szigeti R,Laritsky E,Tatevian N,Smith CW,Shen L,Waterland RA

更新日期：2010-06-01 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：:Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP) are two neurodegenerative disorders characterized by the accumulation of TDP-43. TDP-43 is proteolitically cleaved to generate two major C-terminal fragments of 35 and 25 kDa. The latter, known as TDP-25, is a consistent feature of FT...

journal_title：Human molecular genetics

authors： Caccamo A,Shaw DM,Guarino F,Messina A,Walker AW,Oddo S

更新日期：2015-08-15 00:00:00

abstract：:Genomic DNA from 19 Japanese patients with congenital lipoid adrenal hyperplasia (lipoid CAH) representing 16 different families was examined to identify the genetic alterations of steroidogenic acute regulatory protein (StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY karyotype. Six of the 46,XX p...

journal_title：Human molecular genetics

authors： Nakae J,Tajima T,Sugawara T,Arakane F,Hanaki K,Hotsubo T,Igarashi N,Igarashi Y,Ishii T,Koda N,Kondo T,Kohno H,Nakagawa Y,Tachibana K,Takeshima Y,Tsubouchi K,Strauss JF 3rd,Fujieda K

更新日期：1997-04-01 00:00:00

abstract：:Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular disease that affects the aorta, carotid, coronary and pulmonary arteries. Previous molecular genetic data have led to the hypothesis that SVAS results from mutations in the elastin gene, ELN. In these studies, the disease phenotype was linked to...

journal_title：Human molecular genetics

authors： Li DY,Toland AE,Boak BB,Atkinson DL,Ensing GJ,Morris CA,Keating MT

更新日期：1997-07-01 00:00:00

abstract：:A cluster of imprinted genes on human chromosome 15q11-q13 (the PWS/AS domain) and its ortholog on mouse chromosome 7c is believed to be regulated by an imprinting control center. Although minideletions in this region in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) patients revealed that two elements, shorte...

journal_title：Human molecular genetics

authors： Kantor B,Makedonski K,Green-Finberg Y,Shemer R,Razin A

更新日期：2004-04-01 00:00:00

abstract：:Understanding the biological functions of tau variants can illuminate differential etiologies of Alzheimer's disease (AD) and primary tauopathies. Though the end-stage neuropathological attributes of AD and primary tauopathies are similar, the etiology and behavioral outcomes of these diseases follow unique and diverg...

journal_title：Human molecular genetics

authors： Koller EJ,Gonzalez De La Cruz E,Machula T,Ibanez KR,Lin WL,Williams T,Riffe CJ,Ryu D,Strang KH,Liu X,Janus C,Golde TE,Dickson D,Giasson BI,Chakrabarty P

更新日期：2019-10-01 00:00:00

abstract：:Mutations in transforming growth factor beta (TGFβ) receptor type II (TGFBR2) cause Loeys-Dietz syndrome, characterized by craniofacial and cardiovascular abnormalities. Mice with a deletion of Tgfbr2 in cranial neural crest cells (Tgfbr2(fl/fl);Wnt1-Cre mice) develop cleft palate as the result of abnormal TGFβ signal...

journal_title：Human molecular genetics

authors： Iwata J,Suzuki A,Pelikan RC,Ho TV,Sanchez-Lara PA,Chai Y

更新日期：2014-01-01 00:00:00

abstract：:Huntington's disease (HD) and myotonic dystrophy (DM1) are caused by trinucleotide repeat expansions. The repeats show different instability patterns according to the disorder, cell type and developmental stage. Here we studied the behavior of these repeats in DM1- and HD-derived human embryonic stem cells (hESCs) bef...

journal_title：Human molecular genetics

authors： Seriola A,Spits C,Simard JP,Hilven P,Haentjens P,Pearson CE,Sermon K

更新日期：2011-01-01 00:00:00

abstract：:Mucolipidosis IV (MLIV) is an orphan neurodevelopmental disease that causes severe neurologic dysfunction and loss of vision. Currently there is no therapy for MLIV. It is caused by loss of function of the lysosomal channel mucolipin-1, also known as TRPML1. Knockout of the Mcoln1 gene in a mouse model mirrors clinica...

journal_title：Human molecular genetics

authors： Weinstock LD,Furness AM,Herron SS,Smith SS,Sankar SB,DeRosa SG,Gao D,Mepyans ME,Scotto Rosato A,Medina DL,Vardi A,Ferreira NS,Cho SM,Futerman AH,Slaugenhaupt SA,Wood LB,Grishchuk Y

更新日期：2018-08-01 00:00:00

abstract：:The purpose of this study was to determine whether thrombospondin (TSP)-1 promotes macrophage activity and disease progression in dysferlinopathy. First, we found that levels of TSP-1 are elevated in blood of non-ambulant dysferlinopathy patients compared with ambulant patients and healthy controls, supporting the ide...

journal_title：Human molecular genetics

authors： Urao N,Mirza RE,Corbiere TF,Hollander Z,Borchers CH,Koh TJ

更新日期：2017-12-15 00:00:00

abstract：:Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring trios from the Norwegian Mother, Father and Child Cohort Study to optimize runs of homozygosity (RO...

journal_title：Human molecular genetics

authors： Sole-Navais P,Bacelis J,Helgeland Ø,Modzelewska D,Vaudel M,Flatley C,Andreassen O,Njølstad PR,Muglia LJ,Johansson S,Zhang G,Jacobsson B

更新日期：2020-12-08 00:00:00

abstract：:Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-DOPA), the rate-limiting step in the biosynthesis of dopamine. Recently, we described a point mutation in hTH (Q381K) in a family of two siblings suffering from progressive L-DOPA-responsive dystonia (DRD), representing the...

journal_title：Human molecular genetics

authors： Knappskog PM,Flatmark T,Mallet J,Lüdecke B,Bartholomé K

更新日期：1995-07-01 00:00:00

abstract：:To assess the relationship between the genotype and phenotype of adult CF patients we have selected from a group of 512 CF patients attending centres in France, all these of greater than 35 years. We have analysed the entire coding sequence of their CFTR genes. The complete genotype was determined in 7 of the 8 patien...

journal_title：Human molecular genetics

authors： Férec C,Verlingue C,Guillermit H,Quéré I,Raguénès O,Feigelson J,Audrézet MP,Moullier P,Mercier B

更新日期：1993-10-01 00:00:00

abstract：:Niemann-Pick type C (NPC) disease, an autosomal recessive disorder caused primarily by loss-of-function mutations in NPC1 gene, is characterized neuropathologically by intracellular cholesterol accumulation, gliosis and neuronal loss in selected brain regions. Recent studies have shown that NPC disease exhibits intrig...

journal_title：Human molecular genetics

authors： Maulik M,Ghoshal B,Kim J,Wang Y,Yang J,Westaway D,Kar S

更新日期：2012-11-15 00:00:00

abstract：:Osteoarthritis is a common, complex disease with no curative therapy. In this review, we summarize current knowledge on disease aetiopathogenesis and outline genetics and genomics approaches that are helping catalyse a much-needed improved understanding of the biological underpinning of disease development and progres...

journal_title：Human molecular genetics

authors： Cibrián Uhalte E,Wilkinson JM,Southam L,Zeggini E

更新日期：2017-10-01 00:00:00

abstract：:Blood levels of adiponectin, an adipocyte-secreted protein correlated with metabolic and cardiovascular risks, are highly heritable. Genome-wide association (GWA) studies for adiponectin levels have identified 14 loci harboring variants associated with blood levels of adiponectin. To identify novel adiponectin-associa...

journal_title：Human molecular genetics

authors： Wu Y,Gao H,Li H,Tabara Y,Nakatochi M,Chiu YF,Park EJ,Wen W,Adair LS,Borja JB,Cai Q,Chang YC,Chen P,Croteau-Chonka DC,Fogarty MP,Gan W,He CT,Hsiung CA,Hwu CM,Ichihara S,Igase M,Jo J,Kato N,Kawamoto R,Kuzawa

更新日期：2014-02-15 00:00:00

abstract：:Polyglutamine expansion in certain proteins causes neurodegeneration in inherited disorders such as Huntington disease and X-linked spinobulbar muscular atrophy. Polyglutamine tracts promote protein aggregation in vitro and in vivo with a strict length-dependence that strongly implicates alternative protein folding an...

journal_title：Human molecular genetics

authors： Desai UA,Pallos J,Ma AA,Stockwell BR,Thompson LM,Marsh JL,Diamond MI

更新日期：2006-07-01 00:00:00

abstract：:Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by polyglutamine expansion in the disease protein, huntingtin. In HD patients and transgenic mice, the affected neurons form characteristic ubiquitin-positive nuclear inclusions (NIs). We have established ecdysone-inducible stable mou...

journal_title：Human molecular genetics

authors： Jana NR,Tanaka M,Wang Gh,Nukina N

更新日期：2000-08-12 00:00:00

abstract：:Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks. A genome-wide search using polymorphic di- and tri-nucleotide repeats was initiated ...

journal_title：Human molecular genetics

authors： von Brederlow B,Hahn AF,Koopman WJ,Ebers GC,Bulman DE

更新日期：1995-02-01 00:00:00

abstract：:The transcription factor SOX10 is mutated in the human neurocristopathy Waardenburg-Shah syndrome (WS4), which is characterized by enteric aganglionosis and pigmentation defects. SOX10 directly regulates genes expressed in neural crest lineages, including the enteric ganglia and melanocytes. Although some SOX10 target...

journal_title：Human molecular genetics

authors： Antonellis A,Bennett WR,Menheniott TR,Prasad AB,Lee-Lin SQ,NISC Comparative Sequencing Program.,Green ED,Paisley D,Kelsh RN,Pavan WJ,Ward A

更新日期：2006-01-15 00:00:00

abstract：:During mitosis, Kif11, a kinesin motor protein, promotes bipolar spindle formation and chromosome movement, and during interphase, Kif11 mediates diverse trafficking processes in the cytoplasm. In humans, inactivating mutations in KIF11 are associated with (1) retinal hypovascularization with or without microcephaly a...

journal_title：Human molecular genetics

authors： Wang Y,Smallwood PM,Williams J,Nathans J

更新日期：2020-05-08 00:00:00