Results 251 to 260 of about 325,490 (342)

Splice‑site variant c.3531+1G>T in <i>COL1A1</i> in a family with osteogenesis imperfecta. [PDF]

Mol Med Rep
Huang Y, Zhou Y, Zhang L, Shen Y, Yao X, Xie J, Mei L, Ge Y.   +7 more
europepmc   +1 more source

Comprehensive genetic analysis of poorly differentiated gastric cancer in young females

Annals of Gastroenterological Surgery, EarlyView.
Although the involvement of female sex hormones in the development of poorly differentiated gastric cancer in young females is controversial, our detailed analysis using RNA‐seq suggested that the female sex hormone, β‐estradiol plays a role in the development of poorly differentiated gastric cancer in young females. Abstract Aim The reasons behind the
Nobuhiro Nakazawa, Takehiko Yokobori, Yohei Morishita, Akinobu Echigo, Reika Kawabata‐Iwakawa, Akiharu Kimura, Akihiko Sano, Makoto Sakai, Ken Shirabe, Hiroshi Saeki   +9 more
wiley   +1 more source

hnRNPH1: A Multifaceted Regulator in RNA Processing and Disease Pathogenesis. [PDF]

Int J Mol Sci
Zhu L, Yi W, Zhang L, Qiu C, Sun N, He J, Feng P, Wu Q, Wang G, Wu G.   +9 more
europepmc   +1 more source

m6A Modulates RAN Translation From CAG Repeat Expansion RNA

Aggregate, EarlyView.
We described a novel role of N6‐methyladenosine in promoting non‐canonical repeat‐associated non‐AUG translation from CAG repeat expansion RNA. ABSTRACT Nucleotide repeat expansions contribute to the development of a number of neurodegenerative diseases.
Yuxiang Sun, Zhouxian Li, Hui Dai, Yinsheng Wang   +3 more
wiley   +1 more source

U1 RNA-protein complex preferentially binds to both 5' and 3' splice junction sequences in RNA or single-stranded DNA.

, 1984
Kazuaki Tatei, Kei Takemura, Akila Mayeda, Yasuyuki Fujiwara, Hideaki Tanaka, Akira Ishihama, Yasumi Ohshima   +6 more
openalex   +1 more source

Geometry‐Guided Transformer for Monocular 3D Object Detection

Advanced Intelligent Systems, EarlyView.
This work proposes a geometry‐guided transformer‐based framework for monocular 3D object detection. By incorporating spatial features and geometry guidance through the advanced transformer structure, the method addresses the limitations of existing methods and improves detection accuracy and convergence speed, achieving SOTA detection performance with ...
Man Zhang, Yongqiang Zhang, Jinwei Sun, Kai‐Leung Yung, Lidong Yang   +4 more
wiley   +1 more source

A novel loss-of-function <i>SYCP2</i> variant causes asthenoteratozoospermia in infertile males. [PDF]

Front Genet
Liu C, Zhang Y, Zhao Y, Luo H.
europepmc   +1 more source

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni   +11 more
wiley   +1 more source

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction. [PDF]

Mol Med
Bychkov I, Shchukina E, Zakharova E.
europepmc   +1 more source