Results 71 to 80 of about 41,960 (230)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

A novel class of microRNA-recognition elements that function only within open reading frames. [PDF]

, 2018
MicroRNAs (miRNAs) are well known to target 3' untranslated regions (3' UTRs) in mRNAs, thereby silencing gene expression at the post-transcriptional level.
A Aizer, A Helwak, A Jakymiw, A Lal, AE Pasquinelli, AJ Giraldez, Alexander Dobin, AM Duursma, AR Buskirk, AR Quinlan, B Langmead, Bing Zhou, CJ Decker, CJ Shoemaker, CJ Woolstenhulme, CP Petersen, Dehe Wang, DP Bartel, DT Humphreys, E Huntzinger, EL Nostrand Van, GB Loeb, Guangqiao Liu, H Guo, HA Meijer, HO Iwakawa, I Behm-Ansmant, I Elcheva, J Hausser, J Liu, J Liu, JH Kim, Jie Zhou, JJ Forman, JP Broughton, K Seggerson, KA O’Donnell, Kai Zhang, L Wu, Ligang Wu, M Hafner, M Kouwenhove van, M Rehmsmeier, MD Robinson, MK Doma, ML Donnelly, N Rajewsky, NT Schirle, PA Maroney, Qian Zhao, R Ishimura, R Ishimura, R Parker, Ran Cao, RS Pillai, S Bagga, S Djuranovic, S Grosswendt, S Gu, S Jonas, S Nottrott, S Takagi, SN Bhattacharyya, SW Chi, SW Eichhorn, Timothy Nilsen, TT Tat, V Presnyak, W Filipowicz, Wen Ruan, X Adiconis, Xiang-Dong Fu, Xiaorong Zhang, Y Ishigaki, Y Liao, Y Tay, Y Wang, Y Xue, Y Zhao, Ya Zhao, Yan Qin, Yu Zhou, Yuanchao Xue, Z Cai, Zhiqiang Cai, Zonggui Chen   +85 more
core   +2 more sources

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Early LQT2 Nonsense Mutation Generates N-Terminally Truncated hERG Channels with Altered Gating Properties by the Reinitiation of Translation

, 2012
Mutations in the human ether-a-go-go-related gene (hERG) result in long QT syndrome type 2 (LQT2). The hERG gene encodes a K+ channel that contributes to the repolarization of the cardiac action potential.
Gong, Qiuming, Packer, Jonathan D., Stump, Matthew R., Zhou, Zhengfeng   +3 more
core   +1 more source

A Upf3b-mutant mouse model with behavioral and neurogenesis defects. [PDF]

, 2018
Nonsense-mediated RNA decay (NMD) is a highly conserved and selective RNA degradation pathway that acts on RNAs terminating their reading frames in specific contexts.
Cook-Andersen, H, Dumdie, J, Espinoza, JL, Gecz, J, Huang, L, Jolly, LA, Jones, SH, Kim, H, Lou, C-H, Phan, MH, Roberts, AJ, Shum, EY, Skarbrevik, DM, Swerdlow, NR, Wilkinson, MF   +14 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

The 5' → 3' exoribonuclease XRN1/Pacman and its functions in cellular processes and development [PDF]

, 2012
XRN1 is a 5' → 3' processive exoribonuclease that degrades mRNAs after they have been decapped. It is highly conserved in all eukaryotes, including homologs in Drosophila melanogaster (Pacman), Caenorhabditis elegans (XRN1), and Saccharomyces cerevisiae (
Jones, Christopher Iain, Newbury, Sarah Faith, Zabolotskaya, Maria Vasilyevna   +2 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

Nonsense-Mediated mRNA Decay Mutation in Aspergillus nidulans [PDF]

Eukaryotic Cell, 2006
ABSTRACT An Aspergillus nidulans mutation, designated nmdA1 , has been selected as a partial suppressor of a frameshift mutation and shown to truncate the homologue of the Saccharomyces cerevisiae nonsense-mediated mRNA decay (NMD) surveillance component ...
Igor Y, Morozov, Susana, Negrete-Urtasun, Joan, Tilburn, Christine A, Jansen, Mark X, Caddick, Herbert N, Arst   +5 more
openaire   +2 more sources

An allelic variant in the intergenic region between ERAP1 and ERAP2 correlates with an inverse expression of the two genes [PDF]

, 2018
The Endoplasmatic Reticulum Aminopeptidases ERAP1 and ERAP2 are implicated in a variety of immune and non-immune functions. Most studies however have focused on their role in shaping the HLA class I peptidome by trimming peptides to the optimal size ...
Cauli, A, Fiorillo, Mt, Mathieu, A, Paladini, F, Piga, M, Sorrentino, R, Tedeschi, V, Vitulano, C   +7 more
core   +2 more sources