Results 191 to 200 of about 76,927 (296)

Identification of the <i>HMGA2</i>::<i>CIBAR1-DT</i> fusion transcript in two lipomas with chromosomal rearrangements involving chromosomes 8 and 12. [PDF]

Front Oncol
Brunetti M, Andersen K, Lobmaier I, Micci F.   +3 more
europepmc   +1 more source

Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7. [PDF]

Genes (Basel), 2023
Villa N, Redaelli S, Farina S, Conconi D, Sala EM, Crosti F, Mariani S, Colombo CM, Dalprà L, Lavitrano M, Bentivegna A, Roversi G.   +11 more
europepmc   +1 more source

Chromosome‐Level Genome Assemblies of Two Softshell Turtles with ZZ/ZW Provide Insights into TE‐Driven Recombination Suppression in Sex Chromosomes

Integrative Zoology, EarlyView.
This study presents the first genomic identification and characterization of ZW sex chromosomes in two soft‐shelled turtle species through genome assembly and resequencing. We reveal the structural organization of ZW chromosomes, identifying both pseudoautosomal regions (PARs) and differentiated regions.
Jianjun Liu, Zhiyuan Yang, Min Tang, Tingting Chen, Siqi Liu, Ziyao Meng, Xingjiang Bu, Xingquan Xia, Guang Yang, Liuwang Nie   +9 more
wiley   +1 more source

Chromosomal Rearrangements in 1,787 Cases of Acute Leukemia in Korea over 15 Years. [PDF]

Ann Lab Med
Son D, Jang HC, Lee YE, Choi YJ, Park JH, Lim HJ, Choi HJ, Baek HJ, Kook H, Kim M, Song GY, Ahn SY, Jung SH, Yang DH, Lee JJ, Kim HJ, Ahn JS, Shin MG.   +17 more
europepmc   +1 more source

Modeling Hereditary Angioedema With Personalized EPSC‐Derived Hepatocytes: A CRISPR‐Validated Platform for Mutation‐Specific Mechanisms and Therapeutic Innovation

Allergy, EarlyView.
Patient‐derived expanded potential stem cell (EPSC) hepatocytes reveal that pathogenic SERPING1 variants cause distinct cellular defects in hereditary angioedema. While most mutations reduce SERPING1 transcription and C1‐INH secretion, a large deletion induces intracellular C1‐INH retention.
Xueyan Liu, Yuxin Wang, Jane C. Y. Wong, Xiang Zhang, Cuixi Wu, Pengyu Chen, Yunzhi Yang, Pentao Liu, Chak Sing Lau, Matthew Cook, Philip Hei Li   +10 more
wiley   +1 more source

It Takes Two to Tango: A Pluralist Account for Building Comprehensive Explanations in Human Evolution

American Anthropologist, EarlyView.
ABSTRACT The evolutionary study of human dispersal is a key topic in biological anthropology. However, recent research has revealed inconsistencies between molecular and anatomical data across different timescales and geographic regions. Despite increased interdisciplinary dialogue, these discordances are rarely analyzed in depth or interpreted for ...
Lumila Paula Menéndez, Sophie Veigl
wiley   +1 more source

Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies. [PDF]

Genet Med Open
Fang H, Eacker SM, Wu Y, Neufeld-Kaiser W, Laurino M, Keel S, Horwitz MS, Liu YJ.   +7 more
europepmc   +1 more source

Covalent drug discovery: Progress against key targets, emerging strategies and lessons learnt

British Journal of Pharmacology, EarlyView.
Abstract Covalent drug discovery is currently experiencing a boom in industrial and academic interest. To date, at least 75 covalent drugs have received regulatory approval, targeting both traditional target classes and more challenging proteins for which other approaches failed. In many cases, unique aspects of covalent targeting are essential for the
Charles P. Brown, Alan Armstrong, David J. Mann   +2 more
wiley   +1 more source

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements. [PDF]

Genes (Basel)
Mitrakos AK, Kosma K, Makrythanasis P, Tzetis M.   +3 more
europepmc   +1 more source

Information on chromosome rearrangements

Fungal Genetics Reports, 1977
D. D. Perkins, E. G. Barry
openaire   +2 more sources