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Page 1
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.
Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T. Lamont RE, et al. Am J Med Genet A. 2005 Jan 15;132A(2):136-43. doi: 10.1002/ajmg.a.30420. Am J Med Genet A. 2005. PMID: 15578624
Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder with an estimated incidence of 1 in 355 live births in the Hutterite population. ...
Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder with an estimated incidence of 1 in 355 live birt …
Bowen-Conradi syndrome: a clinical and genetic study.
Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, Chodirker B, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara TM. Lowry RB, et al. Am J Med Genet A. 2003 Jul 30;120A(3):423-8. doi: 10.1002/ajmg.a.20059. Am J Med Genet A. 2003. PMID: 12838567
The purpose of the study was to delineate the anomalies and the natural life history of persons with the Bowen-Conradi syndrome [Bowen and Conradi 1976: Birth Defects: Orig Artic Ser XII(6):101-108]. ...
The purpose of the study was to delineate the anomalies and the natural life history of persons with the Bowen-Conradi synd …
Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment.
Warda AS, Freytag B, Haag S, Sloan KE, Görlich D, Bohnsack MT. Warda AS, et al. Hum Mol Genet. 2016 Dec 15;25(24):5353-5364. doi: 10.1093/hmg/ddw351. Hum Mol Genet. 2016. PMID: 27798105 Free PMC article.
Bowen-Conradi syndrome (BCS) is a severe genetic disorder that is characterised by various developmental abnormalities, bone marrow failure and early infant death. ...
Bowen-Conradi syndrome (BCS) is a severe genetic disorder that is characterised by various developmental abnormalities, …
Naturally occurring modified ribonucleosides.
McCown PJ, Ruszkowska A, Kunkler CN, Breger K, Hulewicz JP, Wang MC, Springer NA, Brown JA. McCown PJ, et al. Wiley Interdiscip Rev RNA. 2020 Sep;11(5):e1595. doi: 10.1002/wrna.1595. Epub 2020 Apr 16. Wiley Interdiscip Rev RNA. 2020. PMID: 32301288 Free PMC article. Review.
The aberrant presence or absence of RNA modifications can lead to human disease, ranging from cancer to various metabolic and developmental illnesses such as Hoyeraal-Hreidarsson syndrome, Bowen-Conradi syndrome, or Williams-Beuren syndrome. In this re …
The aberrant presence or absence of RNA modifications can lead to human disease, ranging from cancer to various metabolic and developmental …
The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase.
Wurm JP, Meyer B, Bahr U, Held M, Frolow O, Kötter P, Engels JW, Heckel A, Karas M, Entian KD, Wöhnert J. Wurm JP, et al. Nucleic Acids Res. 2010 Apr;38(7):2387-98. doi: 10.1093/nar/gkp1189. Epub 2010 Jan 4. Nucleic Acids Res. 2010. PMID: 20047967 Free PMC article.
A mutation in the human Nep1 homolog causes Bowen-Conradi syndrome-a severe developmental disorder. Structures of Nep1 revealed a dimer with a fold similar to the SPOUT-class of RNA-methyltransferases suggesting that Nep1 acts as a methyltransferase in riboso …
A mutation in the human Nep1 homolog causes Bowen-Conradi syndrome-a severe developmental disorder. Structures of Nep1 …
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B. Armistead J, et al. Am J Hum Genet. 2009 Jun;84(6):728-39. doi: 10.1016/j.ajhg.2009.04.017. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463982 Free PMC article.
Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation, and death in early childhood. ...
Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnat …
Bowen-Conradi syndrome.
Lemire EG. Lemire EG. Clin Dysmorphol. 2002 Apr;11(2):149. doi: 10.1097/00019605-200204000-00018. Clin Dysmorphol. 2002. PMID: 12002151 No abstract available.
Chemical Modifications of Ribosomal RNA.
Sharma S, Entian KD. Sharma S, et al. Methods Mol Biol. 2022;2533:149-166. doi: 10.1007/978-1-0716-2501-9_9. Methods Mol Biol. 2022. PMID: 35796987 Free PMC article.
Mutations in factors involved in rRNA modification are linked to several rare severe human diseases (e.g., X-linked Dyskeratosis congenita, the Bowen-Conradi syndrome and the William-Beuren disease). In this chapter, we summarize all rRNA modifications and th …
Mutations in factors involved in rRNA modification are linked to several rare severe human diseases (e.g., X-linked Dyskeratosis congenita, …
A Hutterite condition that mimics Bowen-Conradi syndrome.
Flanagan JD, Reuter S, Crotwell PL, Myers A, De Berg K. Flanagan JD, et al. S D Med. 2015 Mar;68(3):101-3. S D Med. 2015. PMID: 25906497
Bowen-Conradi syndrome (BCS) is a common autosomal recessive condition in the Hutterite population. ...
Bowen-Conradi syndrome (BCS) is a common autosomal recessive condition in the Hutterite population. ...
The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.
Hunter AG, Woerner SJ, Montalvo-Hicks LD, Fowlow SB, Haslam RH, Metcalf PJ, Lowry RB. Hunter AG, et al. Am J Med Genet. 1979;3(3):269-79. doi: 10.1002/ajmg.1320030305. Am J Med Genet. 1979. PMID: 484596
Our additional cases confirm that the major features of the syndrome include porportionate intrauterine growth retardation, microcephaly, micrognathia, a prominent nose, rocker-bottom feet, joint limitation, and failure to thrive, with death within the first year of life. Bowe …
Our additional cases confirm that the major features of the syndrome include porportionate intrauterine growth retardation, microcephaly, mi …
23 results