Results 211 to 220 of about 51,494 (318)

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

A new dystrophin-deficient rat model mirroring exon skipping in patients with DMD exon 45 deletions. [PDF]

Dis Model Mech
Wang T, Daoud C, Dubois A, Corre G, Bellec J, Bovolenta M, Philidet L, Dorval A, Bourg N, Roudaut C, Albini S, Warthi G, Jaber A, Richard I.   +13 more
europepmc   +1 more source

Analysis of the Phenotype and Gene Mutations of Two Families With Combined Mutations of Anticoagulant Protein Genes

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
In these two pedigrees, we identified distinct mutations in the AT and PC genes. Individuals harboring both mutations exhibited a significantly higher incidence of venous thrombosis. ABSTRACT Background AT and PC are key components of the anticoagulant system. Mutations in their encoding genes, SERPINC1 and PROC, can lead to insufficient protein levels
Yueli Guo, Tingting Shan, Wenjieying Zheng, Chun Zhao, Wanzhong Kong, Xiaojing Zou   +5 more
wiley   +1 more source

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]

, 2017
Connolly, Anne M, Cooper, Megan A, Dharnidharka, Vikas R, et al,, Willing, Marcia C   +4 more
core   +2 more sources

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Two affected fetuses in a COG5‐CDG family exhibited fetal hydrops and skeletal malformations, which were found to segregate with the paternal frameshift variant c.1972del and the maternal splice‐site variant c.2168_2168+4delinsCATAAAA in the COG5 gene.
Qi Yang, Wei He, Qiang Zhang, Sheng Yi, Xunzhao Zhou, Linlin Wang, Shang Yi, Zailong Qin, Jingsi Luo   +8 more
wiley   +1 more source

Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration. [PDF]

Invest Ophthalmol Vis Sci
Li W, Li Y, Zhou Y, Liu Y, Liu H, Wei X, Sun Z, Han X, Zou X, Li H, Sui R.   +10 more
europepmc   +1 more source

Splice Variant of Spalax Heparanase Skipping Exon 12 [PDF]

Nicola J. Nasser, Eviatar Nevo, Aaron Avivi   +2 more
openalex   +1 more source

MET Exon 14 Skipping Mutation‐Positive Lung Cancer With Multiple Cystic Airspaces: A Case Report

Respirology Case Reports, Volume 14, Issue 4, April 2026.
Lung cancer associated with cystic airspaces is rare and may be misdiagnosed as a benign or inflammatory condition. This case demonstrates advanced lung adenocarcinoma with multiple cystic lung lesions and a cystic brain metastasis harbouring a MET exon 14 skipping mutation, which showed a marked response to MET inhibition.
Atsuki Asai, Shun Matsuura, Kensuke Kita, Kyohei Matsushita, Ryo Suzuki, Takumi Nagasaki, Yuya Yamamoto, Kotaro Yamada, Ryuuichi Nakamura, Norimichi Akiyama, Kazuki Tanaka, Naoki Koshimizu   +11 more
wiley   +1 more source

Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPK. [PDF]

HGG Adv
Doss RM, Wirth SA, Pitsch JW, Dias CM, Gropman AL, Breuss MW.   +5 more
europepmc   +1 more source

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping [PDF]

, 2001
Claudia Di Blasi
openalex   +1 more source