Results 231 to 240 of about 132,731 (277)

Clinic Examination and Gene Diagnosis for a Birt-Hogg-Dubé Syndrome Family With a Novel <i>flcn</i> Frameshift Mutation Causing Nonsense-Mediated mRNA Degradation. [PDF]

Hum Mutat
Xu Y, Gao J, An Y, Zou C, Ding G, Yang G.   +5 more
europepmc   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Quantitative analysis of DNA‐GATA1 binding alterations linked to hematopoietic disorders

The FEBS Journal, EarlyView.
Native holdup allows the quantitative determination of affinities between full‐length transcription factors and DNA. Mutations in either the protein or the DNA can modulate binding strength, which can be precisely quantified using this approach. Applied to GATA1, it revealed mutations that alter DNA binding.
Boglarka Zambo, Bastien Morlet, Luc Negroni, Orsolya Mózner, Balázs Sarkadi, Gilles Travé, Gergo Gogl   +6 more
wiley   +1 more source

Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation. [PDF]

Mov Disord Clin Pract
Colucci F, Barca S, Cilia R, De Franco V, Elia AE, Golfrè Andreasi N, Romito L, Telese R, Braccia A, Leta V, Grisoli M, Panteghini C, Garavaglia B, Devigili G, Eleopra R.   +14 more
europepmc   +1 more source

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Inherited platelet disorders (IPDs) are rare hematologic conditions encompassing a heterogeneous spectrum of quantitative and qualitative platelet defects, frequently associated with variable clinical phenotypes and comorbidities. Accurate diagnosis necessitates comprehensive genetic characterization, detailed clinical and bleeding ...
Silvia Ferrari, Daniela Regazzo, Antonella Bertomoro, Anna Cerbo, Alessandro Galbiati, Elisabetta Cosi, Paolo Simioni   +6 more
wiley   +1 more source

Hybrid sorghum breeding in China: A historical review and perspectives

Journal of Integrative Plant Biology, EarlyView.
To commemorate the 60th anniversary of the promotion and application of three‐line hybrid sorghum in China, this review highlights pivotal scientific breakthroughs, systematically summarizes the progress in hybrid sorghum breeding and dwarf sorghum breeding in the country, and presents an outlook on the future of sorghum breeding.
Xiangxiang Meng, Lu Li, Qian Qian, Liang Jiang, Zhaosheng Kong   +4 more
wiley   +1 more source

The receptor‐like pseudokinase LENG stimulates chilling tolerance in rice by inhibiting the activity of the OsCRPK1‐OsGF14d module

Journal of Integrative Plant Biology, EarlyView.
The rice receptor‐like pseudokinase LENG enhances chilling tolerance by binding to and suppressing the kinase activity of OsCRPK1, thereby preventing OsCRPK1‐mediated phosphorylation of the cold‐tolerance positive regulator OsGF14d. ABSTRACT Cold damage during the seedling and reproductive stages has a pronounced impact on rice development and yield ...
Shuting Yuan, Chunjue Xu, Xia Wang, Wei Yan, Xiaojie Hua, Yi Zhuang, Cuifang Wang, Changjian Wang, Yihang Gong, Jianxin Wu, Letian Chen, Xiaoyan Tang, Wenbo Pan   +12 more
wiley   +1 more source

Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome. [PDF]

Front Med (Lausanne)
Lang X, Wang T, Guo S, Dang Y, Zhang Y, Liu H, He H, Li L, Yuan H, He T, Wang Q, Qin S, Cheng R, Yan X, Cui H.   +14 more
europepmc   +1 more source

The GmGT‐2F, a trihelix transcription factor, regulates seed oil content by directly activating GmAGAL transcription in soybean

Journal of Integrative Plant Biology, EarlyView.
In soybean, the trihelix transcription factor GmGT‐2F positively regulates the expression of the α‐galactosidase gene GmAGAL, thereby modulating seed oil content. The cyclophilin GmCYP2 interacts with GmGT‐2F and suppresses GmAGAL activation. Haplotype diversity analysis of GmGT‐2F, GmCYP2, and GmAGAL identified favorable haplotype combinations ...
Shuangzhe Li, Yifan Cui, Yang Liu, Mingliang Yang, Xiaoxia Wu, Qingshan Chen, Ying Zhao   +6 more
wiley   +1 more source