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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.
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 …
Bowen-Conradi syndrome in non Hutterite infant.
Innes AM, Lowry RB. Innes AM, et al. Clin Dysmorphol. 2002 Apr;11(2):147-8. doi: 10.1097/00019605-200204000-00017. Clin Dysmorphol. 2002. PMID: 12002150
The authors' review their experience of Bowen-Conradi syndrome and the available literature. They point out that there have been three previously published reports of possible Bowen-Conradi syndrome in non Hutterite children....
The authors' review their experience of Bowen-Conradi syndrome and the available literature. They point out that there …
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. ...
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, …
The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of psi1191 in yeast 18S rRNA.
Meyer B, Wurm JP, Kötter P, Leisegang MS, Schilling V, Buchhaupt M, Held M, Bahr U, Karas M, Heckel A, Bohnsack MT, Wöhnert J, Entian KD. Meyer B, et al. Nucleic Acids Res. 2011 Mar;39(4):1526-37. doi: 10.1093/nar/gkq931. Epub 2010 Oct 23. Nucleic Acids Res. 2011. PMID: 20972225 Free PMC article.
The Nep1 (Emg1) SPOUT-class methyltransferase is an essential ribosome assembly factor and the human Bowen-Conradi syndrome (BCS) is caused by a specific Nep1(D86G) mutation. We recently showed in vitro that Methanocaldococcus jannaschii Nep1 is a sequence-sp …
The Nep1 (Emg1) SPOUT-class methyltransferase is an essential ribosome assembly factor and the human Bowen-Conradi syndrome …
Mutation of EMG1 causing Bowen-Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay.
Armistead J, Hemming R, Patel N, Triggs-Raine B. Armistead J, et al. BBA Clin. 2014 May 29;1:33-43. doi: 10.1016/j.bbacli.2014.05.002. eCollection 2014 Jun. BBA Clin. 2014. PMID: 26676230 Free PMC article.
Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder caused by a D86G substitution in the protein, Essential for Mitotic Growth 1 (EMG1). ...
Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive disorder caused by a D86G substitution in the protein, Ess …
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 review ar …
The aberrant presence or absence of RNA modifications can lead to human disease, ranging from cancer to various metabolic and developmental …
Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites.
Torbert N, Reuter S, Myers A, De Berg K, Crotwell PL, Flanagan JD. Torbert N, et al. S D Med. 2015 Feb;68(2):65-7, 69. S D Med. 2015. PMID: 25799636
Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. ...
Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. ...
31 results