Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis
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NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processingMutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeEmerging roles of the neuronal nucleolusEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseDiverse diseases from a ubiquitous process: the ribosomopathy paradoxA protein interaction map of the LSU processome.Both endonucleolytic and exonucleolytic cleavage mediate ITS1 removal during human ribosomal RNA processingMassively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Rbm24a and Rbm24b are required for normal somitogenesis.When ribosomes go bad: diseases of ribosome biogenesis.Regulation of lin-4 miRNA expression, organismal growth and development by a conserved RNA binding protein in C. elegansDysregulation of RNA polymerase I transcription during disease.Yeast one-hybrid screen of a thymus epithelial library identifies ZBTB7A as a regulator of thymic insulin expressionMutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome.Language Impairment Resulting from a de novo Deletion of 7q32.1q33.To grow or not to grow: hair morphogenesis and human genetic hair disordersCongenital lethal motor neuron disease with a novel defect in ribosome biogenesis.MicroRNAs and developmental timing.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63., a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in
P2860
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P2860
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Alopecia, neurological defects ...... iated with ribosome biogenesis
@ast
Alopecia, neurological defects ...... iated with ribosome biogenesis
@en
type
label
Alopecia, neurological defects ...... iated with ribosome biogenesis
@ast
Alopecia, neurological defects ...... iated with ribosome biogenesis
@en
prefLabel
Alopecia, neurological defects ...... iated with ribosome biogenesis
@ast
Alopecia, neurological defects ...... iated with ribosome biogenesis
@en
P2093
P2860
P50
P1476
Alopecia, neurological defects ...... iated with ribosome biogenesis
@en
P2093
Albrecht Bindereif
Ayelet Shani-Adir
Dan Geiger
Eli Sprecher
Janna Nousbeck
Margarita Indelman
Maurice A van Steensel
Mordechai Choder
Peter M Steijlen
P2860
P304
P356
10.1016/J.AJHG.2008.03.014
P407
P577
2008-04-24T00:00:00Z