Results 271 to 280 of about 416,899 (328)

RNA-seq Splicing Profile of the <i>CDH1</i> Gene and Its Impact on the Clinical Pathogenicity Classification of <i>CDH1</i> Variants: A Description of Alternative and Pathogenic Splicing Patterns. [PDF]

Cancers (Basel)
Sebai M, Tang R, Adnani Y, Fievet A, Cabaret O, Robert de Rancher MA, Auger N, Elaribi Y, Jilani H, Limacher JM, Caron O, Jemaa LB, Rouleau E.   +12 more
europepmc   +1 more source

The mitochondrial DNA copy number and ovary‐related reproductive disorders: A bidirectional two‐sample Mendelian randomization study

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.
Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng, Xiao Han, Congquan Wu, Qiaowen Lu, Shujun Gao   +4 more
wiley   +1 more source

DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome. [PDF]

Hum Genome Var
Kawai T, Aoki T, Nakabayashi K, Hata K, Kaname T, Kosaki R.   +5 more
europepmc   +1 more source

Uncovering the role of genetic polymorphisms in cervical insufficiency

International Journal of Gynecology &Obstetrics, EarlyView.
Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi, Michail Kalinderis, Maria Chatzidimitriou, Liana Fidani   +3 more
wiley   +1 more source

Intron turnover of slc26a1 and slc26a2 and convergence of intron insertion sites. [PDF]

Sci Rep
Torii K, Ota C, Ota C, Nagashima A, Kajikawa M, Kato A.   +5 more
europepmc   +1 more source

Genome‐wide CRISPR screen reveals an uncharacterized spliceosome regulator as new candidate immunotherapy target

iMeta, EarlyView.
This study identifies the uncharacterized gene C9ORF50 as a novel regulator of immune evasion. Functioning as an intrinsically disordered protein, C9ORF50 drives liquid‐liquid phase separation to facilitate spliceosome assembly and maintain RNA splicing fidelity.
Tong Shao, Chuanyang Liu, Jingyu Kuang, Sisi Xie, Ying Qu, Yingying Li, Lulu Zhang, Fangzhou Liu, Yanhua Qi, Tao Hou, Ming Li, Sujuan Zhang, Yu Liu, Zhixiang Yuan, Jiali Liu, Yanming Hu, Jingyang Wang, Chenghu Song, Shaowei Zhang, Lingyun Zhu, Jianzhong Shao, Aifu Lin, Wenjun Mao, Guangchuan Wang, Lvyun Zhu   +24 more
wiley   +1 more source

RNA denaturation underlies circular RNA separation. [PDF]

Nucleic Acids Res
Jiang Y, Kjems J.
europepmc   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

Journal of Clinical Laboratory Analysis, EarlyView.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng, Wei‐Qian Wang, Sha‐Sha Huang, Min Liu, Su‐Yan Yang, Dong‐Yang Kang, Xiang Wang, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu   +9 more
wiley   +1 more source

The knock-in atlas: a web resource for targeted protein trap by CRISPR/Cas9 in human and mouse cell lines. [PDF]

Nucleic Acids Res
Hanai Y, Hilario PLL, Shiraishi Y, Yoshida N, Murakami S, Shimizu Y, Kano N, Kojima M, Murai K, Kawai T, Okamura K.   +10 more
europepmc   +1 more source

Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report. [PDF]

Biomolecules
Fortunato F, Fiocco L, Margutti A, Neri M, D'Amico A, Bertini E, Ricci E, Mercuri EM, Pane M, Massa R, Greco G, Berardinelli AL, Cereda C, Pini A, Merlini L, Fusco C, Rodolico C, Messina S, Fiorillo C, Bruno C, Pedemonte M, Traverso M, Moroni I, Maggi L, Gibertini S, Pegoraro E, Picillo E, Politano L, Scutifero M, Vercellino F, Massaro F, Filosto M, Gasparini P, Ricci F, Mongini TE, Selvatici R, Ferlini A, Gualandi F.   +37 more
europepmc   +1 more source