BMS1 is mutated in aplasia cutis congenita (Q21092409)

April 2022 Public Data File from Crossref

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3681727/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

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Lack of p21 expression links cell cycle control and appendage regeneration in mice

19 March 2017

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An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA

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19 March 2017

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A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis

19 March 2017

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A telomerase component is defective in the human disease dyskeratosis congenita

19 March 2017

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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

19 March 2017

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An essential GTPase promotes assembly of preribosomal RNA processing complexes

19 March 2017

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Bms1p, a novel GTP-binding protein, and the related Tsr1p are required for distinct steps of 40S ribosome biogenesis in yeast

19 March 2017

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Bms1p, a G-domain-containing protein, associates with Rcl1p and is required for 18S rRNA biogenesis in yeast.

19 March 2017

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RBPJ mutations identified in two families affected by Adams-Oliver syndrome

19 March 2017

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Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

19 March 2017

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Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

19 March 2017

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Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

19 March 2017

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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

19 March 2017

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Mutations in KCTD1 cause scalp-ear-nipple syndrome

19 March 2017

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Defective ribosome assembly in Shwachman-Diamond syndrome

12 September 2017

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Ribosome defects in disorders of erythropoiesis

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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

12 September 2017

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12 September 2017

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The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis.

12 September 2017

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p21(WAF1/Cip1) functions as a suppressor of malignant skin tumor formation and a determinant of keratinocyte stem-cell potential

12 September 2017

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Ultraviolet light induces expression of p53 and p21 in human skin: effect of sunscreen and constitutive p21 expression in skin appendages

12 September 2017

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12 September 2017

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27 September 2017

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p53-independent expression of p21Cip1 in muscle and other terminally differentiating cells

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GTP-dependent formation of a ribonucleoprotein subcomplex required for ribosome biogenesis

27 September 2017

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003573

Ribosome biogenesis factor Bms1-like is essential for liver development in zebrafish

21 January 2018

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Ribosome biogenesis and control of cell proliferation: p53 is not alone

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21 January 2018

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Aplasia cutis congenita and associated disorders: an update

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https://pubmed.ncbi.nlm.nih.gov/23785305

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Inhibitory function of p21Cip1/WAF1 in differentiation of primary mouse keratinocytes independent of cell cycle control

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Alternative pre-rRNA processing pathways in human cells and their alteration by cycloheximide inhibition of protein synthesis

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12 December 2020