Results 231 to 240 of about 645,043 (338)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Testosterone Delays Bone Microstructural Destruction via Osteoblast‐Androgen Receptor‐Mediated Upregulation of Tenascin‐C

Advanced Science, EarlyView.
This study reveals that Testosterone–Androgen Receptor signaling delays elderly male bone destruction by upregulation of the osteoblastic extracellular tenascin‐C (TNC). The osteoprotective effect of fibrinogen C‐terminus of TNC is demonstrated in male osteoporotic mice model that osteoblast‐specific Ar‐knockout, potentially via inhibition of ...
Yong Xie, Meng Pan, Zeyuan Zhang, Licheng Zhang, Haotian Liu, Xia Wang, William W Lu, Peifu Tang, Wei Ge   +8 more
wiley   +1 more source

Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders. [PDF]

Genome Med
Wijnant KN, Nadif Kasri N, Vissers LELM.
europepmc   +1 more source

The SlDOF9‐SlSWEET17 Module: a Switch for Controlling Sugar Distribution Between Nematode Induced Galls and Roots in Tomato

Advanced Science, EarlyView.
Root‐knot nematode (RKN) disease seriously affects the yield and quality of vegetable crops. SlDOF9‐SlSWEET17 model helps plants resist RKN infection during early stage by switching off the sugar transport capacity of other SlSWEET proteins that are hijacked by RKNs.
Xiaoyun Wang, Zhimei Wang, Xinyue Tang, Jiamei Qin, Xiaoxuan Zhou, Lixia Gu, Huihui Bian, Lulu Sun, Huang Huang, Rui Yang, Jianli Wang, Shaohui Wang, Shuangchen Chen, Zhongren Yang, Wenchao Zhao   +14 more
wiley   +1 more source

Author Correction: Full-length RNA-Seq of the RHOH gene in human B cells reveals new exons and splicing patterns. [PDF]

Sci Rep
Leprêtre F, Meneboo JP, Villenet C, Delestré L, Quesnel B, Shelley CS, Figeac M, Galiègue-Zouitina S.   +7 more
europepmc   +1 more source

A first exon-encoded domain of E1A sufficient for posttranslational modification, nuclear-localization, and induction of adenovirus E3 promoter expression in Xenopus oocytes.

, 1985
Joel D. Richter, Paul R. Young, N C Jones, B Krippl, Martin Rosenberg, B Ferguson   +5 more
openalex   +1 more source

EccDNA‐Driven VPS41 Amplification Alleviates Genotoxic Stress via Lysosomal KAI1 Degradation

Advanced Science, EarlyView.
Following ionizing radiation, eccDNA‐mediated VPS41 amplification slightly increases its expression but fails to prevent apoptosis. Introducing exogenous eccDNA or VPS41 enhances VPS41‐KAI1 interaction, promoting lysosomal degradation of KAI1. This process inhibits apoptotic signaling, enhancing cell survival and resistance to radiation‐induced damage.
Bin Shi, Ping Yang, Huaijin Qiao, Jinchen He, Bin Song, Hao Bai, Fengdi Jiang, Yining Zhang, Qian Li, Tao Yan, Wenlin Tu, Daojiang Yu, Shuyu Zhang   +12 more
wiley   +1 more source

CRISPR-directed exon skipping; friend or foe (opportunity or warning sign)? [PDF]

Mol Ther Nucleic Acids
Banas KH, Kmiec EB.
europepmc   +1 more source

Different exon-intron organization at the 5' part of a mouse class I gene is used to generate a novel H-2Kd-related mRNA.

, 1983
Jean‐Louis Lalanne, Madeleine Cochet, Arthur Kümmer, Gabriel Gachelin, Philippe Kourilsky   +4 more
openalex   +1 more source

A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. [PDF]

, 1993
J. C. Lloyd, P Narcisi, Allan J. Richards, F M Pope   +3 more
openalex   +1 more source