Mechanisms and pathways of growth failure in primordial dwarfism.
about
Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndromeMutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesisATR-mediated regulation of nuclear and cellular plasticityShort and tall stature: a new paradigm emergesMeier-Gorlin syndromeNew connections between splicing and human diseaseThe Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or DNA damage response in DrosophilaLINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceThe BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier–Gorlin syndromeMutations in the NHEJ component XRCC4 cause primordial dwarfismAdvances in Skeletal Dysplasia GeneticsIdentification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel SyndromeCEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombinationMicrocephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewA pericentrin-related protein homolog in Aspergillus nidulans plays important roles in nucleus positioning and cell polarity by affecting microtubule organizationLoss of centrioles causes chromosomal instability in vertebrate somatic cells.Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.Extreme growth failure is a common presentation of ligase IV deficiency.Maintaining genome stability in the nervous system.Small organelle, big responsibility: the role of centrosomes in development and disease.Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.Genetic evaluation of short stature.Endocrine control of growth.Primordial dwarfism: overview of clinical and genetic aspects.Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.Identifying biological pathways that underlie primordial short stature using network analysis.An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.An extra allele of Chk1 limits oncogene-induced replicative stress and promotes transformation.Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfismPOC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplicationLats1 suppresses centrosome overduplication by modulating the stability of Cdc25B.Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.H19 lncRNA alters DNA methylation genome wide by regulating S-adenosylhomocysteine hydrolase.Truncation of POC1A associated with short stature and extreme insulin resistanceHistone H4 Lysine 20 (H4K20) Methylation, Expanding the Signaling Potential of the Proteome One Methyl Moiety at a Time.A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle.
P2860
Q21144903-9FEA829C-4771-4CFF-8CE1-5605B8349C8DQ24318539-E370443B-6AD8-40E5-954B-75D528AF28A5Q26747245-694BA44C-CE84-403A-A32E-97B7DB1443C8Q26781983-A7F8586B-4A9E-4248-B13B-D3446350140FQ26783609-4889EB20-A3A0-4BEC-9B1D-6AA9000261FEQ27005815-7A4686DB-83FE-4AF5-9FF6-65DCFB4BF480Q27305012-AE699DF1-DD26-4A69-8297-0025885E18AFQ27310217-F8B67088-1DCC-48FF-842B-F219351E88E0Q27677935-C40D7AF6-2551-45E7-BC1A-2B08C63D41FFQ28258055-AFDA891E-28E1-4249-8522-4CE37B711CFEQ28261525-14AC120E-78BE-4BB5-BD0F-6CADE43DA551Q28485037-038F9AAF-FACC-41EE-883F-62EA4AC55B57Q28589697-2FC8E4B9-43C0-4661-BDB5-248433BB2A2CQ29994631-BBE9D2E0-0E7D-41D6-BDEE-E5517C23BBA3Q30531279-0154DF69-A6EF-4F9F-A0F5-F596131B93E4Q30559126-8ED4C799-82E7-4E5D-9C39-CBE7322928ECQ30860802-6BF24395-1785-4C48-9E37-D78FBFC2C9EEQ33410904-1C20A565-239E-403B-BD7D-DF16D93C8ECCQ33957193-12E007CB-CF15-48EF-9BA0-B4A4431641D8Q33959953-032F64F6-DAEB-469F-AF8F-F578AE246395Q33967955-6AA22BC2-ED5B-48F0-B254-34E3F2E8E595Q34117563-1EE75A86-28B8-4D6B-A4E0-60C8E84D42EEQ34130975-B2101924-B8BD-4161-8797-29ACFBDFFF90Q34341010-03F97778-B162-4D41-BF54-77A229DD2108Q34672718-A864A90C-0544-41F0-B6F2-FD4CA0945D48Q34679213-959AAC88-D27C-4426-B477-1B52196B9129Q35142298-2DCCA381-ED44-41A3-B75E-7F9DA451EE6BQ35578228-5EFA39B7-1816-488D-AC32-BC42200B0D41Q35825997-C78A35A9-AFB9-4F76-AF6B-82BD46FC7D4AQ36083139-5FC3D6FC-CD8A-4926-8031-C477D9A017BDQ36105008-712D6720-A4A2-4E3B-B363-8E915F0A74B7Q36152933-CAEC2281-97F6-47E1-8B48-F2A806AAF393Q36186360-0550340D-55B5-4615-BD47-1D4BF1FE1509Q36245724-AC1A276F-9BB2-43B5-9667-2E9173115E28Q36361399-FDB77610-05C6-44FD-8CB4-3CCFD4707ACDQ36419741-E9D4BB9F-4FDC-48A1-83D5-03BE0D8A6854Q36438183-FF303D40-5287-4993-BB8B-4928573B77F4Q36488996-84E1E6CB-0E01-4D48-BB01-041A49E112D3Q36745115-FB27151F-605F-496C-BCC0-8BA91C0DB4E8Q36758475-45C1D390-1977-4305-860A-1CF0BAC7E313
P2860
Mechanisms and pathways of growth failure in primordial dwarfism.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Mechanisms and pathways of growth failure in primordial dwarfism.
@en
Mechanisms and pathways of growth failure in primordial dwarfism.
@nl
type
label
Mechanisms and pathways of growth failure in primordial dwarfism.
@en
Mechanisms and pathways of growth failure in primordial dwarfism.
@nl
prefLabel
Mechanisms and pathways of growth failure in primordial dwarfism.
@en
Mechanisms and pathways of growth failure in primordial dwarfism.
@nl
P2860
P356
P1433
P1476
Mechanisms and pathways of growth failure in primordial dwarfism
@en
P2093
Anna Klingseisen
P2860
P304
P356
10.1101/GAD.169037
P577
2011-10-01T00:00:00Z