Results 181 to 190 of about 379,249 (335)

Loss of the Y Chromosome in Oral Potentially Premalignant Disorders Predicts Malignant Progression: An Integrative Cross‐Species Multi‐Cohort Bioinformatic Study [PDF]

Rui Han, Jos B. Poell, Cristina Conde‐López, Tuula Salo, Ina Kurth, Ruud H. Brakenhoff, Jochen Heß   +6 more
openalex   +1 more source

Molecular characterization of chromosome 7 long arm deletions in myeloid disorders [PDF]

, 1987
Juha Kere, Tapani Ruutu, R Lahtinen, Albert de la Chapelle   +3 more
openalex   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

Advanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang, Zemin Jiang, Qiaoyun Yang, Hong Zheng, Minghao Wang, Chennianci Zhu, Lih‐Wen Deng, Karen Carmelina Crasta, Yih‐Cherng Liou   +8 more
wiley   +1 more source

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation. [PDF]

Front Genet
León A, Aguirre AS, Lindstrand A, Ek M, Romero VI.   +4 more
europepmc   +1 more source

Targeting Lactate and Lactylation in Cancer Metabolism and Immunotherapy

Advanced Science, EarlyView.
Lactate, once deemed a metabolic waste, emerges as a central regulator of cancer progression. This review elucidates how lactate and its epigenetic derivative, protein lactylation, orchestrate tumor metabolism, immune suppression, and therapeutic resistance.
Jiajing Gong, Yuhang Xie, Zhijie Weng, Yongzhi Wu, Longjiang Li, Bo Li   +5 more
wiley   +1 more source

A Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot. [PDF]

Clin Case Rep
Gazzaz N.
europepmc   +1 more source

The Chromosome Disorders [PDF]

Postgraduate Medical Journal, 1966
openaire   +1 more source

Chromosome X-wide common variant association study in autism spectrum disorder [PDF]

Marla Mendes de Aquino, D. Chen, Worrawat Engchuan, Thiago Peixoto Leal, Bhooma Thiruvahindrapuram, Brett Trost, Jennifer Howe, Giovanna Pellecchia, Thomas Nalpathamkalam, Roumiana Alexandrova, Nelson Bautista Salazar, Ethan Alexander McKee, Natalia Rivera-Alfaro, Meng‐Chuan Lai, Sara Bandrés‐Ciga, Delnaz Roshandel, Clarrisa A. Bradley, Evdokia Anagnostou, Lei Sun, Stephen W. Scherer   +19 more
openalex   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions. [PDF]

Hum Mutat
Rraku E, Medina TD, van Ravenswaaij-Arts CMA, Slofstra MK, Swertz MA, Dijkhuizen T, Johansson LF, Engwerda A.   +7 more
europepmc   +1 more source