The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation - Test2 - elhamkhani - TriplyDB

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

http://www.wikidata.org/entity/Q28254083

about

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients Guarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathway Diverse diseases from a ubiquitous process: the ribosomopathy paradox CRISPR/Cas9 allows efficient and complete knock-in of a destabilization domain-tagged essential protein in a human cell line, allowing rapid knockdown of protein function Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome.Developmental epigenetics of the murine secondary palate Mutation of a Nopp140 gene dao-5 alters rDNA transcription and increases germ cell apoptosis in C. elegans.Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.The ribosome filter redux.Nucleolar stress with and without p53.When ribosomes go bad: diseases of ribosome biogenesis.Profiling of ribose methylations in RNA by high-throughput sequencing.Ribosomopathies: mechanisms of disease.The NIP7 protein is required for accurate pre-rRNA processing in human cells.Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.Palate morphogenesis: current understanding and future directions.Subunit compositions of Arabidopsis RNA polymerases I and III reveal Pol I- and Pol III-specific forms of the AC40 subunit and alternative forms of the C53 subunit.RNAi knockdown of Nopp140 induces Minute-like phenotypes in Drosophila.Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.Direct and site-specific quantification of RNA 2'-O-methylation by PCR with an engineered DNA polymerase Nucleolus, ribosomes, and cancer Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development.Do ribosomopathies explain some cases of common variable immunodeficiency?Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.The neural crest: a versatile organ system.Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development.Crosstalk between the nucleolus and the DNA damage response.Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.Fungal Ribotoxins: A Review of Potential Biotechnological Applications.Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L.Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression.Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.New bioinformatic tools for analysis of nucleotide modifications in eukaryotic rRNA.The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.Tuning the ribosome: The influence of rRNA modification on eukaryotic ribosome biogenesis and function.Deletion of Drosophila Nopp140 induces subcellular ribosomopathies.Visualization of chemical modifications in the human 80S ribosome structure.

P2860

Q21261515-59E94811-0931-43B8-9B4B-9A8F9C2F2269 Q27022918-F39120AB-363B-4210-9477-0446B31F3634 Q27694538-821F2A1E-72BB-4EDA-829B-EE83F1165D4B Q28538004-C682C515-C858-4B79-AE82-F73D9B3A9D5E Q28910336-38E18F27-A0CC-4E63-BF29-5ED8273E59DD Q33579912-E49262BF-8013-4B11-9ECC-130706C2C8F0 Q33614979-42D9755F-BC71-4D21-A45A-4DBF58755C96 Q33654163-4D9AE736-5C33-42A6-A201-993FD33C61A6 Q33916840-D52117AF-5359-4ABA-AF5D-920F3F868629 Q34094025-1005E54E-7161-4DC7-9DB4-80DFA4520E1C Q34183329-A2FEA6A1-0956-4CE7-A014-EA3101D0770E Q34248659-AC89886D-1B68-4E8F-B37B-13C4ADCA9EB7 Q34449160-2581ADA2-E37F-4342-BDE7-C03CB3EA270A Q34454066-8A7DE0F4-229D-42C9-949F-F02398871B77 Q34513808-65BF76DE-C757-4FDD-B558-CC5AF4B6EC7A Q35011856-DDDED4E1-D466-4561-862F-4829F4EDE170 Q35111595-18BD3A43-08C1-46C2-A5F5-BACC68B2D2EC Q35562078-E0BB45B5-194E-45E8-9B13-800949A90FD2 Q35810596-C8FB4558-0168-4F02-8086-D54B93C08EDB Q36035710-DDDB88DC-ECB7-4242-9709-53249FBD6EBE Q36175245-94D7B41A-7F94-49E4-BDCC-C240EEA9882C Q36870545-B571A2BD-387A-4C86-8BDD-A284DE3D31FF Q37201211-AD865FB4-2208-442D-AD8E-AF85CE129DAD Q37465858-5868FC71-BBBC-420C-BCA8-002D799735C4 Q37533761-4ED39FED-6126-4241-9C66-5155C61C8F77 Q37808258-A419B37E-8361-45F9-96E6-21FBAF8044DA Q38021351-AB0462AC-173F-4F6D-8CCD-C9CA10930C63 Q38250192-3C7148E5-EC2A-4BF1-9160-6AC7DE675838 Q38915638-1E79D018-F657-4A4F-9C13-908F97064E76 Q39098597-526E4BD2-31DD-44C9-AC79-5A27AA6CA460 Q39130059-5DC5759E-25BA-420E-B7AD-00A7D5F033FE Q39147928-770ED113-257F-4394-ABB7-0300471ED484 Q39339918-DBDEEB0F-12BF-4BCF-A23C-5D150133CEA8 Q39943321-3B3413CE-359E-4D21-A81B-D3DC695AE923 Q41192966-A734F18F-91E6-4858-968C-64B3AEA2993B Q41899715-6B5A12AB-62B8-409D-9581-F15740F40D07 Q42130063-99C4BC28-BBF4-4BF1-BA85-1A82DCB03336 Q46904858-91B4E847-FE3F-4DAB-A68C-AACDA1F56E1E Q47070519-1C0EE386-05C5-48EF-90BB-669DD6AC478D Q47397005-6C9EF7C1-56B4-4F00-AA60-DC8A2EEAA2F7

P2860

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

http://www.wikidata.org/entity/Q28254083

description

2005 nî lūn-bûn

@nan

2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2005年の論文

@ja

2005年論文

@yue

2005年論文

@zh-hant

2005年論文

@zh-hk

2005年論文

@zh-mo

2005年論文

@zh-tw

2005年论文

@wuu

name

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@ast

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@en

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@nl

type

label

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@ast

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@en

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@nl

prefLabel

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@ast

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@en

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@nl

P1433

Q28254083-99F8173B-D354-4F13-88D5-E4AF78731DF7

P1476

Q28254083-C3015334-EAC4-4C48-834F-7BB41C72A466

P2093

Q28254083-09992E06-9584-402F-8F9C-BAA58DDC393F

Q28254083-23D2F46E-4357-44B3-9DBD-6487FF7DD136

Q28254083-54C0DF01-C0E2-4A67-B161-C6D04AA5A8CD

Q28254083-64A3E2BB-3FFA-4E08-8AEA-BA109AC6D3BC

Q28254083-D2A90478-48A3-48FB-8C02-8CFF351727F9

Q28254083-EC12677C-8B5D-4EA1-A0A1-5AE7CE0E22F8

P2860

Q28254083-0040D3E5-53AF-47D3-BFFE-1A8CD1AB5E42

Q28254083-0CF60233-6AAE-426C-BBDA-DA2EF791F2A1

Q28254083-22205794-7996-4D7D-8CF7-426BD543C8BC

Q28254083-303310EA-28EF-4807-942B-D52DD7D09772

Q28254083-3306FE13-B4F6-491A-9387-ED8126C6FEA1

Q28254083-3C64762B-A512-4F30-B886-C942A4A80A1A

Q28254083-40E1A42E-A81D-4D8B-8F7C-A0AA9905275A

Q28254083-493EB094-DCEE-4BF5-916C-64C399612676

Q28254083-5C1F02C2-88A8-4C1B-98C4-9036EDFF9092

Q28254083-63F3A3B2-94BB-423D-AB5E-68B52A47971B

P304

Q28254083-2C0007BF-A777-42F6-9890-E3BBE9302A51

P31

Q28254083-13899F04-48D6-4C80-BBFE-F6F17B6C0B13

P3181

Q28254083-8B468CF1-0470-4837-AA2F-03DB08B96F40

P356

Q28254083-76EAB4AE-5611-47E6-AB12-8903618D3523

P407

Q28254083-5D54D0B7-E704-4ECD-8D83-A114836FB5D9

P433

Q28254083-E31F5110-0E24-4482-9093-98A220F9D5F6

P478

Q28254083-8B55BA6D-9D44-4A8F-8BF5-AC17F1CB1104

P577

Q28254083-17D1F455-F96B-4692-AA60-DAAD2562779A

P5875

Q28254083-D9D12B81-3FB8-47B2-92E9-75047D15B341

P698

Q28254083-32B12DF6-7DEA-42F5-A373-445961F80A78

P3181

P356

P1433

Human Molecular Genetics

P1476

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

@en

P2093

Benigno C Valdez

http://www.w3.org/2001/XMLSchema#string

Bianca Gonzales

http://www.w3.org/2001/XMLSchema#string

Dale Henning

http://www.w3.org/2001/XMLSchema#string

Jill Dixon

http://www.w3.org/2001/XMLSchema#string

Michael J Dixon

http://www.w3.org/2001/XMLSchema#string

Rolando B So

http://www.w3.org/2001/XMLSchema#string

P2860

Conserved composition of mammalian box H/ACA and box C/D small nucleolar ribonucleoprotein particles and their interaction with the common factor Nopp140

A common core RNP structure shared between the small nucleoar box C/D RNPs and the spliceosomal U4 snRNP

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP

Human Nopp140, which interacts with RNA polymerase I: implications for rRNA gene transcription and nucleolar structural organization

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

Requirement for intron-encoded U22 small nucleolar RNA in 18S ribosomal RNA maturation

The numerous modified nucleotides in eukaryotic ribosomal RNA

Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene

P304

2035-43

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

2791837

http://www.w3.org/2001/XMLSchema#string

P356

10.1093/HMG/DDI208

http://www.w3.org/2001/XMLSchema#string

P407

P433

14

http://www.w3.org/2001/XMLSchema#string

P478

14

http://www.w3.org/2001/XMLSchema#string

P577

2005-07-15T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

7812154

http://www.w3.org/2001/XMLSchema#string

P698

15930015

http://www.w3.org/2001/XMLSchema#string