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Gene Information
Gene symbol: CTDP1
Gene name: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
HGNC ID: 2498
Synonyms: FCP1
Related Genes
Related Sentences
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PMID |
Sentence |
1 |
6873941
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The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome).
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2 |
6873941
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These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome.
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3 |
8109209
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Increased lenticular aldose reductase activity and high incidence of congenital cataract in the offspring of diabetic rats.
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4 |
12697999
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ABCA12 is most closely related to ABCA1, with an amino acid similarity of 47%.
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5 |
12697999
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Two other genes from ABCA subfamily are associated with human inherited diseases, ABCA1 with the cholesterol transport disorders Tangier disease and familial hypoalphalipoproteinemia, and ABCA4 with several retinal degeneration disorders.
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6 |
12697999
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The ABCA12 gene is located in a region of chromosome 2q34 that harbors the genes for lamellar ichthyosis, polymorphic congenital cataract, and insulin-dependent diabetes mellitus (IDDM13), and therefore is a positional candidate for these pathologies.
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7 |
16773591
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Definition of sites of their expression enabled explanation of their physiological role as well as pathological importance in congenital cataract or nephrogenic diabetes insipidus.
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8 |
16797533
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In the presence of the aldose reductase overexpressing transgene that increases lens osmotic pressure, these double transgenic mice developed more severe congenital cataract and became susceptible to develop diabetic cataract.
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9 |
17291483
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Surprisingly, maturation signals then induce CTD phosphorylation that is associated specifically with transcription initiation steps and accumulates to high levels when expression of the CTD phosphatase FCP-1 is inhibited.
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