Results 121 to 130 of about 111,170 (313)

Replication enhancer elements within the open reading frame of tick-borne encephalitis virus and their evolution within the Flavivirus genus [PDF]

, 2011
We provide experimental evidence of a replication enhancer element (REE) within the capsid gene of tick-borne encephalitis virus (TBEV, genus Flavivirus).
I. M. Jones, Gould, EA, Tuplin, Andrew, Gould, E. A., A. Buckley, E. A. Gould, A. Tuplin, Tuplin, A., Jones, I. M., Jones, I. M. (Ian M.), Buckley, A., Gould, E., T. S. Gritsun, Jones, IM, Gritsun, T. S., Tuplin, A, Evans, DJ, Evans, David J., Gritsun, TS, D. J. Evans, Evans, D. J., Buckley, A   +21 more
core   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Upregulation of long noncoding RNA LINC00152 promotes proliferation and metastasis of esophageal squamous cell carcinoma

, 2019
Yi Yang,1,* Xiangwei Sun,2,* Chuang Chi,3 Yu Liu,3 Chaoxi Lin,3 Deyao Xie,3 Xian Shen,2 Xiaoming Lin31Department of Clinical Skills Experiments Center, Wenzhou Medical University, Wenzhou, Zhejiang 325035, People’s Republic of China; 2Department of
Liu Y, Xie D, Yang Y, Lin C, Chi C, Lin X, Sun X, Shen X   +7 more
core  

Long noncoding RNA expression profiling in cancer : challenges and opportunities

, 2019
In recent years, technological advances in transcriptome profiling revealed that the repertoire of human RNA molecules is more diverse and extended than originally thought.
Lorenzi, Lucia, Everaert, Celine, Speleman, Franki, Vandesompele, Jo, Decock, Anneleen, Avila Cobos, Francisco, Lefever, Steve, Verboom, Karen, Helsmoortel, Hetty, Volders, Pieter-Jan, Mestdagh, Pieter   +10 more
core   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Fine-tuning structural RNA alignments in the twilight zone

, 2010
Bremges A, Schirmer S, Giegerich R. Fine-tuning structural RNA alignments in the twilight zone. BMC Bioinformatics. 2010;11(1): 222.Background A widely used method to find conserved secondary structure in RNA is to first construct a multiple sequence ...
Bremges Andreas, Schirmer, Stefanie, Stefanie Schirmer, Schirmer Stefanie, Bremges, Andreas ; https://orcid.org/, Robert Giegerich, Giegerich, Robert, Giegerich Robert, Andreas Bremges   +8 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A new cancer/testis long noncoding RNA, the OTP-AS1 RNA

Scientific Reports
The orthopedia homeobox (OTP) gene encodes a homeodomain-containing transcription factor involved in brain development. OTP is mapped to human chromosome 5q14.1.
Iuliia K. Karnaukhova, Dmitrii E. Polev, Larisa L. Krukovskaya, Andrei A. Makashov, Alexey E. Masharsky, Olga V. Nazarenko, Irina V. Poverennaya, Vsevolod J. Makeev, Ekaterina B. Akulova, Andrei P. Kozlov   +9 more
doaj   +1 more source

Noncoding RNA-associated competing endogenous RNA networks in trastuzumab-induced cardiotoxicity [PDF]

Trastuzumab-induced cardiotoxicity (TIC) is a common and serious disease with abnormal cardiac function. Accumulating evidence has indicated certain non-coding RNAs (ncRNAs), functioning as competing endogenous RNAs (ceRNAs), impacting the progression of
Bikui Zhang, Nan Su, Yuanying Yang, Yang, Y, Xie, S, Jian Liu, Shanshan Wei, Wenqun Li, Zijun Xiao, Wei, S, Liu, J, Zhang, B, Suifen Xie, Ni Zhou, Li, W, Zhou, N, Xiao, Z, Su, N   +17 more
core   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source