Results 181 to 190 of about 159,772 (339)

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta. [PDF]

Bone Rep, 2021
El-Gazzar A, Mayr JA, Voraberger B, Brugger K, Blouin S, Tischlinger K, Duba HC, Prokisch H, Fratzl-Zelman N, Högler W.   +9 more
europepmc   +1 more source

Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease

, 2017
E. Imahorn, Zafer Yüksel, I. Spoerri, Gülhan Gürel, Céline Imhof, Zeynep Nurhan Saraçoğlu, Ayşe Esra Koku Aksu, Peter L. Rady, Stephen K. Tyring, Werner Kempf, Peter Itin, Bettina Burger   +11 more
openalex   +1 more source

Splice Site Mutation-Induced Alteration of Selective Regional Activity Correlates with the Role of a Gene in Cardiomyopathy [PDF]

, 2013
Jia Fei
openalex   +1 more source

Palmitoylation‐Mediated Ubiquitination of SRPK1 Regulates Ferroptosis in High‐Fat‐Induced Erectile Dysfunction

Advanced Science, EarlyView.
Elevated exogenous palmitic acid promotes the S‐palmitoylation of SRPK1 in endothelial cells, a dynamic process governed by ZDHHC24 and APT1. This post‐translational modification strengthens the interaction between SRPK1 and the E3 ubiquitin ligase MIB1, thereby facilitating the proteasomal degradation of SRPK1.
Xiao‐Hui Tan, Ke‐Fan Li, Yi‐Ming Yuan, Man‐Cheng Xia, Fang‐Zhou Zhao, Hong‐Gang Ying, Zhuo Zhou, Peng‐Chao Gao, Guo‐Qing Xie, Xue‐Song Li, Hui Jiang, Rui‐Li Guan   +11 more
wiley   +1 more source

Engineered GM1 Intersects Between Mitochondrial and Synaptic Pathways to Ameliorate ALS Pathology

Advanced Science, EarlyView.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease driven by genetic and molecular disruptions affecting energy balance, protein homeostasis, and stress responses in nerve cells. Studies using human and rodent models identified convergent defects in mitochondria and synaptic function.
Federica Pilotto, Tristan Dellazizzo Toth, Silvano Bond, Alexander Schmitz, Rim Diab, Sara Y. Ngo Tenlep, Brian Mooney, Silvia Erni, Martina Schobesberger, Olivier Scheidegger, Camille Peitsch, Smita Saxena   +11 more
wiley   +1 more source

Genetic correction of splice site mutation in purified and enriched myoblasts isolated from mdx5cv mice [PDF]

, 2009
Katie Maguire, Takayuki Suzuki, Darlise DiMatteo, Hetal Parekh‐Olmedo, Eric B. Kmiec   +4 more
openalex   +1 more source

Connexin 26 Functions as a Direct Transcriptional Regulator During the Cochlea Development

Advanced Science, EarlyView.
Connexin26 can not only form intercellular channels that mediate rapid communication on the cell membrane, but also enter the nucleus as a transcription factor to directly regulate the transcription of nuclear genes. In the developing cochlea, Cx26 can control the maturation of the molecular scissor ADAM10 by regulating the transcription of TspanC8 ...
Xiaozhou Liu, Le Xie, Yuan Jin, Sen Chen, Xinyu Shi, Yanjun Zong, Zhengdong Zhao, Wei‐Jia Kong, Yu Sun   +8 more
wiley   +1 more source

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report. [PDF]

World J Clin Cases, 2022
Chang YY, Yu CQ, Zhu L.
europepmc   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Correction of a splice-site mutation in the beta-globin gene stimulated by triplex-forming peptide nucleic acids

, 2008
Joanna Chin, Jean Y. Kuan, Pallavi Lonkar, Diane S. Krause, Michael M. Seidman, Kenneth R. Peterson, Peter Nielsen, Ryszard Kole, Peter M. Glazer   +8 more
openalex   +1 more source