Results 111 to 120 of about 85,626 (243)

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

The role of reciprocal fusions in MLL-r acute leukemia: studying the chromosomal translocation t(4;11). [PDF]

Oncogene, 2021
Wilhelm A, Marschalek R.
europepmc   +1 more source

Insights into organelle forming RNAs: Diversity, functions and future perspectives

Animal Models and Experimental Medicine, EarlyView.
RNA molecules play crucial roles in the formation and maintenance of cellular structures and organelles. These ‘organelle formation RNAs’ include ribosomal RNAs, paraspeckle‐forming RNAs, nuclear speckle‐forming RNAs, nucleolus‐forming RNAs, and cytoskeleton‐forming RNA.
Meng Gong, Xiangting Wang, Xiaolin Liang
wiley   +1 more source

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature. [PDF]

Genes (Basel), 2021
Popescu R, Grămescu M, Caba L, Pânzaru MC, Butnariu L, Braha E, Popa S, Rusu C, Cardos G, Zeleniuc M, Martiniuc V, Gug C, Păduraru L, Stamatin M, Diaconu CC, Gorduza EV.   +15 more
europepmc   +1 more source

Preimplantation diagnosis of repeated miscarriage due to chromosomal translocations using metaphase chromosomes of a blastomere biopsied from 4- to 6-cell–stage embryos [PDF]

, 2004
Atsushi Tanaka, Motoi Nagayoshi, S. Awata, Y Mawatari, Izumi Tanaka, Hiroshi Kusunoki   +5 more
openalex   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

[Clinical Impact Assessment and Utilization Prospects of the t(11:18) Chromosomal Translocation in Gastric MALT Lymphoma in Koreans: A Single Center Retrospective Analysis]. [PDF]

Korean J Gastroenterol, 2023
Jung H, Shin DW, Cheung DY, Lee HH, Kim JI, Park SH, Kim TJ.   +6 more
europepmc   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

The role of reciprocal fusions in MLL-r acute leukemia: studying the chromosomal translocation t(6;11). [PDF]

Oncogene, 2021
Kundu A, Kowarz E, Marschalek R.
europepmc   +1 more source

Routine Karyotyping Reveals Frequent Mosaic Reciprocal Chromosome Translocations in Swine: Prevalence, Pedigree, and Litter Size [PDF]

, 2020
Samira Rezaei, Brendan Donaldson, D.A.F. Villagómez, Tamás Révay, Nicolas Mary, D.A. Grossi, W.A. King   +6 more
openalex   +1 more source