Search Results - "Timms AE"

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population: List the full names and institutional addresses for all authors.

Authors: Sasaki, Yuki Ishikawa, Kosuke Hatanaka, Kanako C. et al.

Source: Orphanet Journal of Rare Diseases. 9/4/2023, Vol. 18 Issue 1, p1-12. 12p.

Lactate and histone H3K18 lactylation are associated with metabolic control of gene expression in the retina.

Authors: Gaur, Mohita Brooks, Matthew J. Liang, Xulong et al.

Source: PLoS Genetics. 4/8/2026, Vol. 22 Issue 4, p1-28. 28p.

Plagl1 regulates the retinal progenitor cell to Müller glial cell transition.

Authors: Touahri, Yacine Pak, Alissa David, Luke Ajay et al.

Source: PLoS Genetics. 3/18/2026, Vol. 22 Issue 3, p1-34. 34p.

Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?

Authors: Cavarzere, Paolo Munari, Stefania Arrigoni, Marta et al.

Source: Italian Journal of Pediatrics. 9/29/2025, Vol. 51 Issue 1, p1-8. 8p.

The transient external granular layer in human foetal cerebellum: insights into neurogenesis, genetic regulation, and developmental disorders.

Authors: Kausar, Aamna Nayak, Shalini Sanjeeva Marpalli, Sapna et al.

Source: Anatomy & Cell Biology. Dec2025, Vol. 58 Issue 4, p511-520. 10p.

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.

Authors: Haque, Bushra Cheerie, David Pan, Amy et al.

Source: PLoS Genetics. 1/6/2025, Vol. 21 Issue 1, p1-21. 21p.

Genetic causes of the lissencephaly spectrum: insights from chromosomal microarray and clinical/whole-exome sequencing.

Authors: Meašić, Ana-Maria Vulin, Katarina Bobinec, Adriana et al.

Source: Croatian Medical Journal. Jun2026, Vol. 67 Issue 3, p144-155. 12p.

Modeling neurodegeneration in the retina and strategies for developing pan-neurodegenerative therapies.

Authors: Ward, Emily L. Benowitz, Larry Brunner, Thomas M. et al.

Source: Molecular Neurodegeneration. 10/14/2025, Vol. 20 Issue 1, p1-33. 33p.

Fto-mediated m⁶A modification is essential for cerebellar development through regulating epigenetic reprogramming.

Authors: Jiang, Jing Zhang, Ming Xia, Wenjuan et al.

Source: Journal of Biomedical Science. 8/29/2025, Vol. 32 Issue 1, p1-20. 20p.

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Gene variants in periventricular nodular heterotopia.

Authors: Song J Sun X Zhang C

Source: Acta epileptologica [Acta Epileptol] 2026 May 02; Vol. 8 (1). Date of Electronic Publication: 2026 May 02.

Publication Type: Journal Article; Review

Journal Info: Publisher: BMC Country of Publication: England NLM ID: 9918591884406676 Publication Model: Electronic Cited Medium: Internet ISSN: 2524-4434 (Electronic) Linking ISSN: 25244434 NLM ISO Abbreviation: Acta Epileptol Subsets: PubMed not MEDLINE

A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy.

Authors: Capisizu, Alexandru Sandu, Carmen Caragea, Roxana Maria et al.

Source: Journal of Medicine & Life. Nov2024, Vol. 17 Issue 11, p1023-1029. 7p.

Melanoma antigens in pediatric medulloblastoma contribute to tumor heterogeneity and species-specificity of group 3 tumors.

Authors: Collins, Rebecca R. J. Florke Gee, Rebecca R. Tozandehjani, Sima et al.

Source: Acta Neuropathologica Communications. 7/28/2025, Vol. 13 Issue 1, p1-16. 16p.

Extensive Cystic lymphatic malformation with PIK3CA-Related Overgrowth Spectrum: Prenatal Diagnosis and Autopsy Findings in 3 Fetal Cases.

Authors: Sarreau, M. Pelluard, F. Martin Berenguer, S. et al.

Source: Fetal & Pediatric Pathology. Jul/Aug2025, Vol. 44 Issue 4, p411-427. 17p.

Exome sequencing uncovers promising candidate genes for foetal structural malformations.

Authors: Sudhakar, Digumarthi V.S. Joseph, Shaini Bansal, Vandana et al.

Source: Indian Journal of Medical Research. May2025, Vol. 161 Issue 5, p1-11. 11p.

scaDA: A novel statistical method for differential analysis of single-cell chromatin accessibility sequencing data.

Authors: Zhao, Fengdi Ma, Xin Yao, Bing et al.

Source: PLoS Computational Biology. 8/2/2024, Vol. 20 Issue 8, p1-28. 28p.

Transcription factor interactions explain the context-dependent activity of CRX binding sites.

Authors: Loell, Kaiser J. Friedman, Ryan Z. Myers, Connie A. et al.

Source: PLoS Computational Biology. 1/16/2024, Vol. 20 Issue 1, p1-25. 25p.

Clinical and Molecular Spectrum of PIK3CA-Related Overgrowth Syndrome: A Turkish Cohort.

Alternate Title: PIK3CA-İlişkili Aşırı Büyüme Sendromlarının Klinik ve Moleküler Spektrumu: Türk Hasta Kohortu.

Authors: Taşdelen, Elifcan Sennaroğlu, Selin Kolkıran, Abdulkerim et al.

Source: Dicle Medical Journal / Dicle Tip Dergisi. mar2026, Vol. 53 Issue 1, p203-211. 9p.

KLHDC4 serves as a novel prognostic biomarker and drives tumor progression via PI3K/AKT signaling in clear cell renal cell carcinoma.

Authors: Xu, Qingjiang Chen, Weili Cao, Senming et al.

Source: Scientific Reports. 2/11/2026, Vol. 16 Issue 1, p1-19. 19p.

Rho-associated kinase (ROCK)-associated proteins and genes-encoded proteins upregulated in lung squamous cell carcinoma (LUSC).

Authors: Zakaria MA Rajab NF Chua EW et al.

Source: Journal of the Egyptian National Cancer Institute [J Egypt Natl Canc Inst] 2026 Apr 20; Vol. 38 (1). Date of Electronic Publication: 2026 Apr 20.

Publication Type: Journal Article

Journal Info: Publisher: SpringerOpen Country of Publication: England NLM ID: 9424566 Publication Model: Electronic Cited Medium: Internet ISSN: 2589-0409 (Electronic) Linking ISSN: 11100362 NLM ISO Abbreviation: J Egypt Natl Canc Inst Subsets: MEDLINE