The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities
about
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresMultiple forms of atypical rearrangements generating supernumerary derivative chromosome 15Characterization of the DOC1/APC10 subunit of the yeast and the human anaphase-promoting complexDelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafnessMutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type IHERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomesCUL7: A DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex.Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsSmall evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brainIdentification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting controlMembrane-bound progesterone receptors contain a cytochrome b5-like ligand-binding domainStructure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in humanThree genome-wide association studies and a linkage analysis identify HERC2 as a human iris color geneNercc1, a mammalian NIMA-family kinase, binds the Ran GTPase and regulates mitotic progressionSox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal deathRefinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication clusterKagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted regionHERC3 binding to and regulation by ubiquitinProgressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligaseThe mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genomeAdditional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.Endothelial SIRT1 prevents adverse arterial remodeling by facilitating HERC2-mediated degradation of acetylated LKB1.DNM1DN: a new class of paralogous genomic segments (duplicons) with highly conserved copies on chromosomes Y and 15.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionGenetics of Angelman syndrome.Degradation of the deubiquitinating enzyme USP33 is mediated by p97 and the ubiquitin ligase HERC2.Disruption of the bipartite imprinting center in a family with Angelman syndromeInteraction between HERC1 and M2-type pyruvate kinase.The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.The giant protein HERC1 is recruited to aluminum fluoride-induced actin-rich surface protrusions in HeLa cells.Requirement of phosphatidylinositol-4,5-bisphosphate for HERC1-mediated guanine nucleotide release from ARF proteins.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Functional and pathological relevance of HERC family proteins: a decade later.Genetic susceptibility to tuberculosis in Africans: a genome-wide scan.A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromesDrosophila mind bomb2 is required for maintaining muscle integrity and survivalIdentification and proteomic analysis of distinct UBE3A/E6AP protein complexes.A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.Analysis of segmental duplications and genome assembly in the mouse
P2860
Q21266627-F3744ED2-BF94-41EB-9E4B-AB1FBB110FCEQ21283782-F2328FAB-8ABF-4EB6-9EC8-472A864D35A7Q22009548-976AF6D3-F9DF-4565-999C-F626B702175BQ22010834-D8160F5F-3BCC-4557-B06C-E8D9E49A801FQ22010997-E05FE097-EE91-437D-8057-568FCDA0BFD0Q24292928-4C170E9B-8756-48D5-8BB0-1111BC06F861Q24336508-FB60EE00-92C3-4A38-A469-03FB66795611Q24532789-41BFA892-E345-4723-856F-9C0884093C3FQ24534447-E730D357-5F41-46D6-99C8-97DDA4B38C67Q24539092-BAC8AD17-1BFA-4AE2-8F3B-89FB635494DDQ24553321-64EBDC38-A6D6-4D2A-8B67-67A98F88FE03Q24614728-6B97CE01-C79D-46CD-ABE4-D06F880777FAQ24656270-B358E18F-EA87-4AF9-B15D-4CCCAA13305EQ24674151-7545F90A-BA0B-47EF-A399-E247B7BDD88BQ24682020-4BF831EC-39C7-4FAA-B9D5-A8BBF2E12565Q24796820-8D4C8896-2F3E-4FEE-B6E4-19B43AC5AD32Q26786107-282881CB-0B75-481B-9CDB-55A4FBD91B76Q28143584-96E99426-E4F7-466E-A08B-0878ABDAF6A4Q28472238-1AABCCA7-5F89-49D8-A1B5-4912A212C24AQ28776452-5593219C-C2BC-4111-8AC3-23FFB8DF5295Q30168524-3D6CF107-6F49-4FE4-BBF9-EF8C39B8AFFEQ30827417-91A8000C-0796-4747-8A60-479E3CFAA808Q30830249-EBC8994E-5330-4CDC-8E15-A4DAD05A16B3Q33199120-19DEFED2-DA9B-4D96-B389-D9ACC7354422Q33316874-260F4D92-FBF3-4C4A-988F-33E235A2E746Q33655104-4E755A20-EE62-473D-9A71-C2CF0C7FBE8FQ33888656-60821AF8-6182-4CA5-A1AD-83C8A718DB27Q34020745-7D7D34EF-3621-43AD-BEE4-28386D81F9A0Q34185334-8D09204B-D4FF-4D13-81BE-10E9556E8184Q34190554-4290A343-EF4F-49A6-9F97-808090E269D4Q34298308-0B6835CD-71BF-4423-8ED0-7A9D15F58D5DQ34383208-7624EC75-FFF3-4491-928C-804DAC70CA6DQ34389945-4D732E71-8038-4B9B-9023-6C0BC49E1305Q34510463-334C992B-0131-4578-93D3-65A3804F74AFQ35174396-F18B7D8D-1F99-4F17-836B-2593C15228FAQ35601037-35952613-36D6-4384-BB6D-6BDFD808E5F2Q36119561-B060D5AE-2A55-44F2-BAE6-23F5EA0D64BAQ36210923-5EDEDED5-BAF3-454C-9359-89FB1D57EF98Q36585045-5CBCB96C-AB52-4037-A274-EB5586B0AE21Q36684896-DAA2FFA6-985B-4D24-8816-50F780AF84B0
P2860
The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The ancestral gene for transcr ...... and spermiogenic abnormalities
@ast
The ancestral gene for transcr ...... and spermiogenic abnormalities
@en
The ancestral gene for transcr ...... and spermiogenic abnormalities
@en-gb
The ancestral gene for transcr ...... and spermiogenic abnormalities
@nl
type
label
The ancestral gene for transcr ...... and spermiogenic abnormalities
@ast
The ancestral gene for transcr ...... and spermiogenic abnormalities
@en
The ancestral gene for transcr ...... and spermiogenic abnormalities
@en-gb
The ancestral gene for transcr ...... and spermiogenic abnormalities
@nl
prefLabel
The ancestral gene for transcr ...... and spermiogenic abnormalities
@ast
The ancestral gene for transcr ...... and spermiogenic abnormalities
@en
The ancestral gene for transcr ...... and spermiogenic abnormalities
@en-gb
The ancestral gene for transcr ...... and spermiogenic abnormalities
@nl
P2093
P3181
P356
P1476
The ancestral gene for transcr ...... and spermiogenic abnormalities
@en
P2093
B Horsthemke
D K Johnson
E M Rinchik
M J Walkowicz
R D Nicholls
R E Tarvin
P304
P3181
P356
10.1093/HMG/8.3.533
P407
P577
1999-03-01T00:00:00Z