Search Results - "Gener B"

Modulation of NEAT1 and MALAT1 expression in WJ-MSCs by Covid-19 serum: a foundation for EVs-mediated therapy.

Authors: Infante A Cabodevilla L Gener B et al.

Source: Respiratory research [Respir Res] 2025 Nov 10; Vol. 26 (1), pp. 313. Date of Electronic Publication: 2025 Nov 10.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101090633 Publication Model: Electronic Cited Medium: Internet ISSN: 1465-993X (Electronic) Linking ISSN: 14659921 NLM ISO Abbreviation: Respir Res Subsets: MEDLINE

Safety Evaluation of Autologous Human Bone Marrow-derived MSCs on Hydroxyapatite-based Scaffold for Congenital Pseudarthrosis of the Tibia: A Pilot Clinical Trial.

Authors: Madhuri, Vrisha Ramesh, Sowmya Sahoo, Bibhudutta et al.

Source: Regenerative Engineering & Translational Medicine. Mar2026, Vol. 12 Issue 1, p202-211. 10p.

Fatty acid-binding protein 5 (FABP5) modulates limbal epithelial cell homeostasis by regulating the expression of key genes under both normal and inflammatory conditions, in vitro.

Authors: Amini, Maryam Hsu, Shao-Lun Stachon, Tanja et al.

Source: PLoS ONE. 4/28/2026, Vol. 21 Issue 4, p1-19. 19p.

Genetic mosaicism – importance of clinical features to improve diagnosis.

Authors: Daschkey, Svenja Dietzel-Dahmen, Jutta Drechsler, Matthias et al.

Source: Journal of Rare Diseases. 2/23/2026, Vol. 5 Issue 1, p1-11. 11p.

Evaluation of safety and efficacy of multiple intravenous and intraosseous doses of foetal liver-derived mesenchymal stem cells in children with severe osteogenesis imperfecta : the BOOST2B clinical trial protocol.

Authors: Madhuri V Ramesh S Goos A et al.

Corporate Authors: Madhuri V Ramesh S Goos A et al.

Source: Bone & joint open [Bone Jt Open] 2025 Mar 24; Vol. 6 (3), pp. 361-372. Date of Electronic Publication: 2025 Mar 24.

Publication Type: Journal Article

Journal Info: Publisher: The British Editorial Society of Bone & Joint Surgery Country of Publication: England NLM ID: 101770336 Publication Model: Electronic Cited Medium: Internet ISSN: 2633-1462 (Electronic) Linking ISSN: 26331462 NLM ISO Abbreviation: Bone Jt Open Subsets: PubMed not MEDLINE

Management of Suspected Malignant Hyperthermia With Dantrolene: Clinical Insights From 2 Case Reports in a Single-Center Experience.

Authors: Trung Kien, Nguyen Nguyen Nhat, Tran Dinh Tung, Do et al.

Source: Clinical Medicine Insights: Case Reports. 6/14/2025, Vol. 18, p1-7. 7p.

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Authors: Chorin, Odelia Greenbaum, Lior Lev-Hochberg, Shelly et al.

Source: Orphanet Journal of Rare Diseases. 3/18/2025, Vol. 20 Issue 1, p1-11. 11p.

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PAF1C restores transcription after DNA damage independently of promoting histone mark deposition.

Authors: van Schie JJM de Groot BAFJ van den Heuvel D et al.

Source: EMBO reports [EMBO Rep] 2026 May; Vol. 27 (10), pp. 2731-2748. Date of Electronic Publication: 2026 Apr 08.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

Authors: Lyulcheva-Bennett, Ekaterina Kershaw, Christopher Baker, Eleanor et al.

Source: BMC Medical Genomics. 9/6/2024, Vol. 17 Issue 1, p1-6. 6p.

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Authors: Alba-Pavón P Astigarraga I Alaña L et al.

Source: Translational pediatrics [Transl Pediatr] 2023 Sep 18; Vol. 12 (9), pp. 1715-1724. Date of Electronic Publication: 2023 Sep 06.

Publication Type: Journal Article

Journal Info: Publisher: AME Publishing Company Country of Publication: China NLM ID: 101649179 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2224-4344 (Print) Linking ISSN: 22244336 NLM ISO Abbreviation: Transl Pediatr Subsets: PubMed not MEDLINE

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Authors: Holt, Richard Goudie, David Verde, Alejandra Damián et al.

Source: Ophthalmic Genetics. Dec2022, Vol. 43 Issue 6, p809-816. 8p.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Authors: Nevado J García-Miñaúr S Palomares-Bralo M et al.

Corporate Authors: Nevado J García-Miñaúr S Palomares-Bralo M et al.

Source: Frontiers in genetics [Front Genet] 2022 Apr 12; Vol. 13, pp. 652454. Date of Electronic Publication: 2022 Apr 12 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Chromosomal localization of PHOX2B during M‐phase is disrupted in disease‐associated mutants.

Authors: Sato, Yuki Hayashi, Shinichi Oe, Souichi et al.

Source: Development, Growth & Differentiation. Apr2025, Vol. 67 Issue 3, p136-148. 13p.

High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability.

Authors: Bulduk, B. K. Tortajada, J. Torres‐Egurrola, L. et al.

Source: Journal of Intellectual Disability Research. Feb2025, Vol. 69 Issue 2, p137-152. 16p.

Subjects: Blood testing, High throughput screening (Drug development), Statistical significance, Research funding, Autism, Gene rearrangement, Disease prevalence, Case-control method, Asperger's syndrome, Mitochondrial pathology, Mitochondrial DNA, Sequence analysis

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.

Authors: Chen, Ying Yang, Run Chen, Xin et al.

Source: Molecular Genetics & Genomic Medicine. Apr2024, Vol. 12 Issue 4, p1-9. 9p.

Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta.

Authors: Infante A Alcorta-Sevillano N Macías I et al.

Source: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie [Biomed Pharmacother] 2024 Jun; Vol. 175, pp. 116725. Date of Electronic Publication: 2024 May 13.

Publication Type: Journal Article

Journal Info: Publisher: Editions Scientifiques Elsevier Country of Publication: France NLM ID: 8213295 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1950-6007 (Electronic) Linking ISSN: 07533322 NLM ISO Abbreviation: Biomed Pharmacother Subsets: MEDLINE

Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.

Authors: Wu, Sixun Kondo, Keita Matsushita, Yuki

Source: International Journal of Molecular Sciences. Jan2026, Vol. 27 Issue 2, p926. 17p.

A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.

Authors: Liu, Xinting Chen, Chen Wan, Lin et al.

Source: Brain & Behavior. Dec2023, Vol. 13 Issue 12, p1-8. 8p.

Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome.

Authors: Wang, Xinyi Li, Yue Zhao, Anqi et al.

Source: Molecular Genetics & Genomic Medicine. Nov2023, Vol. 11 Issue 11, p1-7. 7p.