Results 141 to 150 of about 59,267 (253)

Co‐inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction

British Journal of Haematology, EarlyView.
Perla Bandini, Nina Borràs, Laura Martin‐Fernandez, Nuria Fernández‐Mosteirín, Maria Reyes Aguinaco, Olga Benítez, Natàlia Comes, Lorena Ramírez, Noemí González, Carina Lera, Carme Altisent, Francisco Vidal, Irene Corrales   +12 more
wiley   +1 more source

Optimized TadA‐derived base editors efficiently manipulate mRNA splicing by A‐to‐G and C‐to‐K editing in potato

Journal of Integrative Plant Biology, EarlyView.
Two optimized TadA‐derived base editors efficiently generate diverse splicing variants by targeting specific splice sites in potato. ABSTRACT Pre‐messenger RNA (pre‐mRNA) splicing is a critical mechanism for post‐transcriptional regulation in plants. Through alternative splicing, plants produce diverse transcriptomes and proteomes that finely regulate ...
Kaiyuan Chen, Yan Zhang, Jiuzhou Deng, Lumin Zhang, Huiying Zhou, Yaxin Duan, Enle Xiao, Guangtao Zhu, Chunzhi Zhang   +8 more
wiley   +1 more source

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay. [PDF]

Hum Genome Var, 2023
Moriwaki T, Masuno M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Takao K, Tawa K, Yamanouchi Y, Miki A, Otomo T.   +10 more
europepmc   +1 more source

Is There Fairness in AI?

Journal of Management Studies, EarlyView.
Abstract As predictive artificial intelligence (AI) technologies increasingly steer workplace decisions, debates around fairness have intensified. Existing research often approaches fairness either as a set of universal principles supported or undermined by algorithms, or as a product of social interpretations, thereby providing either technologically ...
Elmira van den Broek, Anastasia Sergeeva, Marleen Huysman   +2 more
wiley   +1 more source

p38 MAPK inhibits nonsense-mediated RNA decay in response to persistent DNA damage in noncycling cells [PDF]

, 2017
Cheruiyot, Abigael, Flanagan, Kevin C., Nickless, Andrew, Piwnica-Worms, David, Stewart, Sheila A., You, Zhongsheng   +5 more
core   +2 more sources

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]

, 2016
PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed, Ali, Shahbaz, Assir, Muhammad Zaman, Ayyagari, Radha, Gottsch, Alexander DH, Hejtmancik, J Fielding, Kabir, Firoz, Khan, Shaheen N, Naeem, Muhammad Asif, Riazuddin, S Amer, Riazuddin, Sheikh, Ullah, Inayat   +11 more
core   +1 more source

SnapShot: Nonsense-Mediated mRNA Decay

Cell, 2011
Durand, Sébastien, Lykke-Andersen, Jens
openaire   +2 more sources

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome. [PDF]

Mol Syndromol, 2023
Güleray Lafcı N, Karaosmanoglu B, Taskiran EZ, Simsek-Kiper PO, Utine GE.   +4 more
europepmc   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source