Results 281 to 290 of about 187,172 (325)

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

Clinical Genetics, EarlyView.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer, Matt Edwards, Thomas Macdougall, Anne Baxter, Himanshu Goel   +4 more
wiley   +1 more source

CENP-C-Mis12 complex establishes a regulatory loop through Aurora B for chromosome segregation. [PDF]

Life Sci Alliance
Kong W, Hara M, Tokunaga Y, Okumura K, Hirano Y, Miao J, Takenoshita Y, Hashimoto M, Sasaki H, Fujimori T, Wakabayashi Y, Fukagawa T.   +11 more
europepmc   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

Clinical Genetics, EarlyView.
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib, Thomas Rio Frio, Jean‐Marie Pellegrinelli, Stefania Gimelli, Caterina Marconi, Delphine Le Mercier, Monica Rebollo Polo, Céline Habre, Joël Fluss, Russia Ha‐Vinh Leuchter, Marc Abramowicz, Rosalinda Giannini, Siv Fokstuen   +12 more
wiley   +1 more source

Aurora B controls anaphase onset and error-free chromosome segregation in trypanosomes. [PDF]

J Cell Biol
Ballmer D, Lou HJ, Ishii M, Turk BE, Akiyoshi B.   +4 more
europepmc   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

The role of DNA topoisomerase 1α (AtTOP1α) in regulating arabidopsis meiotic recombination and chromosome segregation. [PDF]

PeerJ
Elesawi IE, Hashem AM, Yao L, Maher M, Hassanin AA, Abd El-Moneim D, Safhi FA, Al Aboud NM, Alshamrani SM, Shehata WF, Chunli C.   +10 more
europepmc   +1 more source

Decoding the Molecular Landscape of Prepubertal Oocyte Maturation: GTPBP4 as a Key Driver of In Vitro Developmental Competence

Cell Proliferation, EarlyView.
Transcriptional and translational characteristics during goat oocyte maturation and identification of key factors, including GTPBP4, for prepubertal goat oocyte maturation. ABSTRACT The intricate mechanisms driving oocyte maturation remain only partially understood, especially within the domains of domestic animal reproduction and translational ...
Jianpeng Qin, Yaozong Wei, Ao Ning, Wenqi Hu, Pengcheng Wan, Beijia Cao, Bo Pan, Tianyi Lv, Kunlin Du, Xueling Yao, Shuqi Zou, Xiangyi Chen, Shengqin Zang, Jiangfeng Ye, Guozhi Yu, Qiuxia Liang, Liuhong Shen, Lin Zhang, Xiang Chen, Keren Cheng, Li Meng, Guangbin Zhou   +21 more
wiley   +1 more source

Inhibitor of Chromosome Segregation in <i>Pseudomonas aeruginosa</i> from Fungal Extracts. [PDF]

ACS Chem Biol
Zhao H, Peramuna T, Ajmal S, Wendt KL, Petrushenko ZM, Premachandra K, Cichewicz RH, Rybenkov VV.   +7 more
europepmc   +1 more source