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Post-Aire Maturation of Thymic Medullary Epithelial Cells Involves Selective Expression of Keratinocyte-Specific AutoantigensIdentification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequenceAn integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing lossCloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeLoss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneityIn depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts.Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesThe autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding proteinAML1 interconnected pathways of leukemogenesisMutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patientsMorquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) geneTWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosisTmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing.Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice.Modulation of Aire regulates the expression of tissue-restricted antigensAutoimmune regulator deficiency results in decreased expression of CCR4 and CCR7 ligands and in delayed migration of CD4+ thymocytesProteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneVinclozolin exposure in utero induces postpubertal prostatitis and reduces sperm production via a reversible hormone-regulated mechanismCloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiencyMice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss.Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling.The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normalsStatistical modeling of sequencing errors in SAGE libraries.Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.Nedd4-WW domain-binding protein 5 (Ndfip1) is associated with neuronal survival after acute cortical brain injury.Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.Integrative analysis of RUNX1 downstream pathways and target genes.A pedigree with autosomal dominant thrombocytopenia, red cell macrocytosis, and an occurrence of t(12:21) positive pre-B acute lymphoblastic leukemia.A serial analysis of gene expression profile of the Alzheimer's disease Tg2576 mouse model.Short-term inhibition of p53 combined with keratinocyte growth factor improves thymic epithelial cell recovery and enhances T-cell reconstitution after murine bone marrow transplantationGene network disruptions and neurogenesis defects in the adult Ts1Cje mouse model of Down syndrome.A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.Estimating the proportion of microarray probes expressed in an RNA sample.Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndromeDeep sequencing analysis of the developing mouse brain reveals a novel microRNADNMT3L is a regulator of X chromosome compaction and post-meiotic gene transcription.Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.
P50
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P50
description
researcher
@en
wetenschapper
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հետազոտող
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name
Hamish S Scott
@nl
Hamish S Scott
@sl
Hamish S. Scott
@en
Hamish S. Scott
@es
ヘイミッシュ・S・スコット
@ja
type
label
Hamish S Scott
@nl
Hamish S Scott
@sl
Hamish S. Scott
@en
Hamish S. Scott
@es
ヘイミッシュ・S・スコット
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altLabel
Hamish S Scott
@en
prefLabel
Hamish S Scott
@nl
Hamish S Scott
@sl
Hamish S. Scott
@en
Hamish S. Scott
@es
ヘイミッシュ・S・スコット
@ja
P1053
B-2122-2009
P106
P1153
7402297583
P214
9560155044894672520003
P2798
P31
P496
0000-0002-5813-631X
P734
P7859
viaf-9560155044894672520003