Results 101 to 110 of about 231,455 (290)

Controlled ovarian hyperstimulation parameters are not associated with de novo chromosomal abnormality rates and clinical pregnancy outcomes in preimplantation genetic testing. [PDF]

Front Endocrinol (Lausanne), 2022
Liu Y, Shen J, Zhang Y, Peng R, Zhao J, Zhou P, Yang R, Guan Y.   +7 more
europepmc   +1 more source

CHCHD10 Mitigates Alzheimer's Disease‐Related Phenotypes in Association With Epigenetic Remodeling in Directly Reprogrammed Neurons

Advanced Science, EarlyView.
CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas, Ching‐Yao Yang, Kexin Zhang, Liam Wetzel, Dina Bugybayeva, Julia Ferguson, Md Mahmudul Hasan, William Samsa, Nandita Patil, Anshul Dash, Tarini Gowda, Xiongwei Zhu, Feixiong Cheng, Tian Liu   +13 more
wiley   +1 more source

Acute Promyelocytic Leukemia with t(2;3): An Unusual Additional Chromosomal Abnormality. [PDF]

Indian J Hematol Blood Transfus, 2022
Gajendra S, Yadav AK, Bhargava M.
europepmc   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

Optical genome mapping (Bionano – Saphyr) for AML associated with cryptic chromosomal recurrent abnormality

peer reviewedHere, we report the diagnostic work-up of a thirty-three-year-old woman presenting with 77% bone marrow myeloid blasts. Conventional cytogenetic did not show any recurrent abnormality but four mutations were found in three genes: FLT3, CEBPA
Beckers, Pablo, KOOPMANSCH, Benjamin, Franke, Sabine, MENTEN, Catherine, Catarin, Nicolas, JAMAR, Mauricette, Fernandez Carazo, Rafael, LLORENTE, William, LETE, Céline, Bours, Vincent, Lambert, Frédéric, GUADAGNI, Alexandra   +11 more
core  

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

eEF1G Orchestrates Translation to Ensure Meiotic Progression in Transcriptionally Quiescent Spermatocytes

Advanced Science, EarlyView.
eEF1G supports translation elongation of meiotic mRNAs in transcriptionally quiescent leptotene and zygotene spermatocytes. Its depletion in germ cells causes meiotic arrest at the zygotene stage, with defective homologous synapsis and unstable recombination intermediates.
Jianze Xu, Yuwei Hu, Xukun Lu, Yuling Cai, Tongtong Li, Ming Gao, Jinlong Ma, Yuan Gao, Shangming Liu, Zi‐Jiang Chen, Jing Meng, Hongbin Liu, Xiaohua Jiang   +12 more
wiley   +1 more source

REGγ Suppresses Ferroptosis and Induces Drug Resistance by Degrading WDR6 in Chondrosarcoma

Advanced Science, EarlyView.
Here, we identified REGγ as a susceptibility factor in chondrosarcoma. Our study demonstrates that abnormally activated REGγ‐20S proteasome promotes chondrosarcoma development and progression. Further validation in animal models revealed that blocking REGγ function induced ferroptosis, suppressed malignant progression of chondrosarcoma, and uncovered a
Fanrong Liu, Shihui Shen, Dongxia Li, Peilin Shi, Jiaming Xu, Tongxin Lv, Yingying Du, Jingwei Zhang, Bo Yang, Hansen Chen, Zhuoya Peng, Wenjie Ren, Lu Zhang, Sheng Cheng, Tongjin Yin, Wencai Sheng, Lei Li, Juan Wu, Qingcheng Yang, Shuogui Xu, Wei Zheng   +20 more
wiley   +1 more source

Congenital glaucoma associated with 22p+ variant in a dysmorphic child

Indian Journal of Ophthalmology, 2003
A case of congenital glaucoma with developmental delay and several dysmorphic features showing 22p+ chromosomal variant is reported.
Mandal Anil, Prabhakara K, Reddy Aramati, Rama Devi A, Panicker Shirly   +4 more
doaj  

Lessons learned from a child with a chromosomal abnormality but no major congenital anomalies. [PDF]

Paediatr Child Health, 2021
Zhou S, Colaiacovo S, Djolovic A, Saleh M.   +3 more
europepmc   +1 more source