Results 111 to 120 of about 83,578 (286)

Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia. [PDF]

Asian J Androl, 2023
Xu Y, Wang J, Liu JH, Gao QQ, Wang B, Xu ZP.   +5 more
europepmc   +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

Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD

Advanced Science, EarlyView.
TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang, Qi Wang, Dongkun Kang, Shijia Wang, Yanli Jiang, Jian‐Zhi Wang, Chen Ming, Rong Liu, Jianlan Gu, Xiaochuan Wang   +9 more
wiley   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Bilateral Laparoscopic Adrenalectomy for Congenital Adrenal Hyperplasia with Severe Hypertension, Resulting from Two Novel Mutations in Splice Donor Sites of CYP11B1 [PDF]

, 2000
Olivier Chabre, Stéphanie Portrat-Doyen, Philippe Chaffanjon, J Vivier, Panagiotis Liakos, F Labat-Moleur, E.M. Chambaz, Yves Morel, G. Defaye   +8 more
openalex   +2 more sources

A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report. [PDF]

Hum Genome Var, 2023
Mashayekhi P, Omrani MD, Tonekaboni SH, Dehghanifard A.   +3 more
europepmc   +1 more source

IncRNA‐ZFAS1, an Emerging Gate‐Keeper in DNA Damage‐Dependent Transcriptional Regulation

Advanced Science, EarlyView.
LncZFAS1 plays a crucial role during DNA damage response in mammalian cells. Loss of lncZFAS1 results in deficient DNA lesion removal and reduced cell viability. Mechanistically, lncZFAS1 modulates RNAPII phosphorylation and transcription and thereby promotes both GG‐NER and TC‐NER upon UV damage.
Jiena Liu, Qing Lu, Zixuan Fan, Jiahui Lin, Nan He, Xin Zhang, Zhaoya Han, Tingting Zhu, Zhenzhen Wu, Yingying Xu, Yuming Wang   +10 more
wiley   +1 more source

Aggressive Squamous Cell Carcinoma in a Case of Epidermodysplasia Verruciformis Carrying a TMC6 Splice-site Mutation. [PDF]

Acta Derm Venereol, 2023
Yokoi K, Arase N, Shimbo T, Fujimoto M, Tanemura A.   +4 more
europepmc   +1 more source

Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome [PDF]

, 1999
Hiroshi Furukawa, Shigeo Murata, Toshio Yabe, Naoki Shimbara, Naoto Keicho, Kouichi Kashiwase, Kaoru Watanabe, Yoshihide Ishikawa, Tatsuya Akaza, Kenji Tadokoro, Shigeto Tohma, Tetsufumi Inoue, Katsushi Tokunaga, Kazuhiko Yamamoto, Keiji Tanaka, Takeo Juji   +15 more
openalex   +1 more source

Epigenetic Activation of CCDC183‐AS1 Promotes Osteoclastogenesis and Prostate Cancer Bone Metastasis Through the FUBP1/LIGHT Axis

Advanced Science, EarlyView.
CCDC183‐AS1 overexpression enhanced the ability of PCa cells to spread to the bone by inducing osteoclastogenesis. Mechanistically, CCDC183‐AS1 interacted with FUBP1 and enhanced its stability, which promoted the transcription of TNFSF14 (LIGHT). Copy number gain‐induced KDM5C epigenetically upregulated CCDC183‐AS1 expression by recruiting TET1 to the ...
Chuandong Lang, Xiangyu Mu, Kun Chen, Xinwen Wang, Yuluo Rong, Jia Wang, Zongcheng Yang, Chi Yin, Yuhu Dai, Jun Xiao, Wenzhi Zhang   +10 more
wiley   +1 more source