Results 271 to 280 of about 67,545 (327)

Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay. [PDF]

Ann Med Surg (Lond)
Idkaidak S, Abu-Hilal LH, Atawneh O, Janem AM, Alqarajeh F.   +4 more
europepmc   +1 more source

SEC‐SAXS/MC Ensemble Structural Studies of the Microtubule Binding Protein Cdt1 Show Monomeric, Folded‐Over Conformations

Cytoskeleton, Volume 82, Issue 6, Page 372-387, June 2025.
ABSTRACT Cdt1 is a mixed folded protein critical for DNA replication licensing and it also has a “moonlighting” role at the kinetochore via direct binding to microtubules and the Ndc80 complex. However, it is unknown how the structure and conformations of Cdt1 could allow it to participate in these multiple, unique sets of protein complexes.
Kyle P. Smith, Srinivas Chakravarthy, Amit Rahi, Manas Chakraborty, Kristen M. Vosberg, Marco Tonelli, Maximilian G. Plach, Arabela A. Grigorescu, Joseph E. Curtis, Dileep Varma   +9 more
wiley   +1 more source

Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Li S, Fang H, Li H, Peng M, Bao J, Cai Y, Chen J, Li Z.   +7 more
europepmc   +1 more source

Current advances in the role of classical non‐homologous end joining in hematologic malignancies

Clinical and Translational Discovery, Volume 5, Issue 3, June 2025.
As depicted in the graphics, the classical NHEJ pathway can either take place in cells with DSBs or normal lymphocytes, reinforcing the stability of genome, and simultaneously maintaining the function of the immune system. While complete deletion causes immunodeficiency and tumourigenesis, some inhibitions could promote cancer therapies.
Pengcheng Liu, Zizhen Xu
wiley   +1 more source

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature. [PDF]

Nutrients
Leone G, Meli C, Falsaperla R, Gullo F, Licciardello L, La Spina L, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +15 more
europepmc   +1 more source

Abstracts

Molecular Oncology, Volume 19, Issue S1, Page 1-895, June 2025.
Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Phenotype and surgical management of drug‐resistant epilepsy in patients with COL4A1 and COL4A2 variants

Epilepsia Open, Volume 10, Issue 3, Page 725-735, June 2025.
Abstract Objective To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2‐related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery. Methods We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4
Jie Shi, Jiuluan Lin, Jianjun Bai, Haixiang Wang, Bingqing Zhang, Qian Feng, Zhaohui Sun, Yiou Liu, Jing He, Xiancheng Song, Siyu Wang, Xiaoyan Liu, Wenjing Zhou   +12 more
wiley   +1 more source

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia. [PDF]

CNS Neurosci Ther
Zhi Y, Shi Y, Lu D, Xu D.
europepmc   +1 more source

The Placental Steroid Hypothesis of Human Brain Evolution

Evolutionary Anthropology: Issues, News, and Reviews, Volume 34, Issue 2, June 2025.
ABSTRACT The evolution of the human brain has long been framed in terms of sexual selection, with an emphasis on consistent but small on‐average volumetric differences between males and females. In this review, we present new molecular, genetic and clinical findings regarding neurodevelopment, cortical expansion and the production of sex steroid ...
Alex Tsompanidis, Graham J. Burton, Simon Baron‐Cohen, Robin I. M. Dunbar   +3 more
wiley   +1 more source

An Association Between Fetal Subarachnoid Space and Various Pathologies Using MR Imaging. [PDF]

Diagnostics (Basel)
Onn-Margalit L, Weissbach T, Gafner M, Fried S, Wandel A, Ziv-Baran T, Katorza E.   +6 more
europepmc   +1 more source