Results 181 to 190 of about 103,950 (258)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Mechanisms, Machinery, and Dynamics of Chromosome Segregation in Zea mays. [PDF]

Genes (Basel)
Duffy ME, Ngaw M, Polsky SE, Marzec AE, Zhang SS, Dzierzgowski OR, Nannas NJ.   +6 more
europepmc   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

The microtubule-severing enzyme spastin regulates spindle dynamics to promote chromosome segregation in Trypanosoma brucei. [PDF]

Commun Biol
Souza Onofre T, Zhou Q, Li Z.
europepmc   +1 more source

Dissection of Mitochondrial Function via Chemical Perturbation and Single‐Cell Profiling

Cell Proliferation, EarlyView.
We establish a systematic framework to dissect mitochondrial function at the module level by combining targeted chemical perturbations with scRNA‐seq. This approach reveals shared and module‐specific programs linking mitochondrial activity to mito‐nuclear communication, stress response, and cell cycle, highlighting the tight coupling between ...
Hao Luo, Xiaona Yin, Hongxin He, Yaning Wang, Hongbo Zhang   +4 more
wiley   +1 more source

Inferring chromosome segregation error stage and crossover in trisomic disorders with application to Down syndrome. [PDF]

Nat Commun
Li Z, Yang W, Wu G, Chang TC, Cheng Z, Devidas M, Shago M, Carroll AJ, Heerema NA, Gastier-Foster JM, Wood BL, Sanclemente L, Raetz EA, Hunger SP, Loh ML, Feingold E, Rosser TC, Allen EG, Sherman SL, Rabin KR, Lupo PJ, Yang JJ.   +21 more
europepmc   +1 more source

Chromatin Remodeller BRD9 Orchestrates Odontoblastic Differentiation via Coordinating RUNX2‐KLF4

Cell Proliferation, EarlyView.
During odontoblast lineage commitment, the chromatin remodeller BRD9 acts as a critical epigenetic coordinator, orchestrating the chromatin landscape to facilitate synergistic binding of key transcription factors RUNX2 and KLF4 to target loci for odontogenesis.
Wenrui Zeng, Yuxiu Lin, Yongyan Gao, Delan Huang, Yuanyuan Li, Honglei Ruan, Guohua Yuan, Huan Liu, Zhi Chen   +8 more
wiley   +1 more source

Cell cycle dependent methylation of Dam1 contributes to kinetochore integrity and faithful chromosome segregation. [PDF]

PLoS Genet
Mishra PK, Au WC, Choy JS, Castineira PG, Khawar A, Tessier C, Das S, Thorkell A, Thorpe PH, Yeh E, Bloom KS, Basrai MA.   +11 more
europepmc   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Autophagy-related protein Atg11 is essential for microtubule-mediated chromosome segregation. [PDF]

PLoS Biol
Reza MH, Aggarwal R, Verma J, Podh NK, Chowdhury R, Mehta G, Manjithaya R, Sanyal K.   +7 more
europepmc   +1 more source