Results 241 to 250 of about 50,865 (308)

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 860-874, May 2025.
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Mengting Jiang, Bin Zhang, Jing Wang, Wei Qiao, Xiuzhen Mao, Bin Yu   +5 more
wiley   +1 more source

Noninvasive preimplantation genetic testing for aneuploidy using blastocyst spent culture medium may serve as a backup of trophectoderm biopsy in conventional preimplantation genetic testing. [PDF]

BMC Med Genomics
Chen S, Wang L, Hu Y, Yao Y, Gao F, Chang C, Zhang L, Huang H, Lu D, Xu C.   +9 more
europepmc   +1 more source

Threonine and tyrosine kinase (TTK) mRNA and protein expression in breast cancer; prognostic significance in the neoadjuvant setting

Histopathology, Volume 86, Issue 6, Page 916-932, May 2025.
This study investigates threonine and tyrosine kinase (TTK) expression in pre‐ and post‐neoadjuvant chemotherapy breast cancer patients. TTK mRNA expression was elevated in breast cancer tissues, predicting reduced survival. Notably, TTK protein expression in neoadjuvant chemotherapy‐treated breast cancer patients was up‐regulated post‐therapy and ...
Abrar Ashi, Aeshah A Awaji, Jacquelyn Bond, Colin A Johnson, Abeer M Shaaban, Sandra M Bell   +5 more
wiley   +1 more source

Bibliometric Analysis of Publications on Prenatal Genetic Screening Using Cell-Free DNA. [PDF]

Cureus
Koçbulut E, Kurt A, Sarikaya Kurt D, Tolunay HE.   +3 more
europepmc   +1 more source

Aneuploidy vs. gene mutation hypothesis of cancer: Recent study claims mutation but is found to support aneuploidy

, 2000
Ruhong Li, Arvind Sonik, Reinhard Stindl, David Rasnick, Peter Duesberg   +4 more
openalex   +1 more source

Analysis of Cellular DNA Content in Pleural Effusion by Flow Cytometry During Lung Cancer Progression: A Case Report. [PDF]

Cureus
Vasilescu MM, Panait ME, Dumitru M.
europepmc   +1 more source

Real‐world genomic landscape of colon and rectal cancer

FEBS Open Bio, Volume 15, Issue 4, Page 674-685, April 2025.
We confirmed enrichment of RTK alterations in patients with RAS/BRAF‐wt tumors and of PI3K pathway alterations in RAS/BRAF‐altered tumors with 51 982 real‐world tissue comprehensive genomic profiling (CGP) samples in CRC. In a subset of 140 patients with both tissue and liquid results, the sensitivity of liquid for results found by tissue was 100% when
Markus Schulze, XiaoZhe Wang, Jawad Hamad, Julia C. F. Quintanilha, Lincoln W. Pasquina, Julia F. Hopkins, Juergen Scheuenpflug, Zheng Feng   +7 more
wiley   +1 more source

A tale of two serines: the effects of histone H2A mutations S122A and S129A on chromosome nondisjunction in Saccharomyces cerevisiae. [PDF]

Genetics
Kozmin SG, Dominska M, Kokoska RJ, Petes TD.   +3 more
europepmc   +1 more source

X‐Linked Gene Dosage and SOX2 Act as Key Roadblocks for Human Germ Cell Specification in Klinefelter Syndrome

Advanced Science, Volume 12, Issue 15, April 17, 2025.
Klinefelter syndrome‐derived iPSCs provide an excellent model for studying X chromosome inactivation and functions of escapee genes during human primordial germ cell‐like cells differentiation process. Downregulation of three X‐linked genes—IGSF1, CHRDL1, and USP9X—significantly enhances the efficiency of hPGCLCs.
Wenteng He, Qing Luo, Jian Zhao, Mengting Wang, Allan Zhao, Luohua Feng, Ahmed Reda, Eva Lindgren, Jan‐Bernd Stukenborg, Jiayu Chen, Qiaolin Deng   +10 more
wiley   +1 more source

False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up. [PDF]

Mol Cytogenet
Ding Q, Bronson AL, Byerly KA, Essendrup AA, Mitchell EB, Runke CK, Rowsey RA, Hoppman NL.   +7 more
europepmc   +1 more source