Search Results - "Guipponi M"

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

Authors: Borja, Nicholas Bivona, Stephanie Peart, Lé Shon et al.

Source: Molecular Genetics & Genomic Medicine. Apr2022, Vol. 10 Issue 4, p1-9. 9p.

Case Report: Familial Cold Autoinflammatory Syndrome With Double Variant in NLRP12 and SETD1A.

Authors: Ruíz-Santana, José Eduardo Aquino-Arango, Oscar Alvarado-Fernández, María Fernanda et al.

Source: Case Reports in Medicine. 5/18/2026, Vol. 2026, p1-6. 6p.

TPTE, a testis-specific PTEN family member, drives spermatogenesis via PI(4,5)P2 synthesis.

Authors: Chen X Wang T Wu H et al.

Source: Cell death & disease [Cell Death Dis] 2026 Mar 25; Vol. 17 (1). Date of Electronic Publication: 2026 Mar 25.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.

Authors: Praveen, Kavita Dobbyn, Lee Gurski, Lauren et al.

Source: Communications Biology. 6/3/2022, Vol. 5 Issue 1, p1-12. 12p.

Functional Variation in RGS12 Should Not Preclude Methylphenidate Use in Bipolar Disorder with Established Mood Stabilization: Preclinical Evidence.

Authors: Agogo-Mawuli, Percy S. Gross, Joshua D. Setola, Vincent et al.

Source: International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 24, p11993. 14p.

WBSCR Locus: At the Crossroads of Human Behavioral Disorders and Domestication of Animals.

Authors: Shepelev, Mikhail V. Skobel, Olga I. Glazko, Tatiana T. et al.

Source: International Journal of Molecular Sciences. Sep2025, Vol. 26 Issue 17, p8549. 21p.

Combination of genetic studies and animal modeling proposes TMPRSS9 as a candidate gene for serum K⁺ variations.

Authors: Auberson, Muriel Wang, Dongmei Ehret, Elodie et al.

Source: Scientific Reports. 7/12/2025, Vol. 15 Issue 1, p1-15. 15p.

Genome-Wide Association Analysis and Genomic Selection for Growth Traits in Grass Carp (Ctenopharyngodon idella).

Authors: Chen, Yuxuan Yu, Qiaozhen Lv, Wenyao et al.

Source: Animals (2076-2615). Jul2025, Vol. 15 Issue 13, p1888. 11p.

What predicts response to sertraline for people with depression in primary care? a secondary data analysis of moderators in the PANDA trial.

Authors: Archer, Charlotte Kessler, David Lewis, Gemma et al.

Source: PLoS ONE. 5/9/2024, Vol. 19 Issue 5, p1-12. 12p.

Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss.

Authors: Laurent S Vannier A Gehrig C et al.

Source: European journal of medical genetics [Eur J Med Genet] 2025 Feb; Vol. 73, pp. 104986. Date of Electronic Publication: 2024 Dec 05.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.

Authors: Chen, Wanling Hu, Jiasheng

Source: Thrombosis Journal. 6/12/2025, Vol. 23 Issue 1, p1-7. 7p.

Retrocochlear Auditory Dysfunctions (RADs) and Their Treatment: A Narrative Review.

Authors: Cuda, Domenico Mancini, Patrizia Chiarella, Giuseppe et al.

Source: Audiology Research. Feb2026, Vol. 16 Issue 1, p5. 34p.

Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Authors: Hahn, Julie Fu, Yi-Ping Brown, Michael R. et al.

Source: PLoS ONE. 11/13/2020, Vol. 15 Issue 11, p1-12. 12p.

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.

Authors: Sallo FB Dysli C Holzer FJ et al.

Source: Ophthalmology science [Ophthalmol Sci] 2024 Sep 11; Vol. 5 (1), pp. 100618. Date of Electronic Publication: 2024 Sep 11 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier, B.V Country of Publication: Netherlands NLM ID: 9918230896206676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-9145 (Electronic) Linking ISSN: 26669145 NLM ISO Abbreviation: Ophthalmol Sci Subsets: PubMed not MEDLINE

One Family with Cholestasis: The Twisted Road to the Diagnosis of Pfic 3—Three Case Reports.

Authors: Vlad, Raluca Maria Dijmărescu, Irina Dobritoiu, Ruxandra et al.

Source: Reports (MDPI AG). Mar2025, Vol. 8 Issue 1, p33. 19p.

KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review.

Authors: Anastasescu, Catalina Mihaela Gheorman, Veronica Godeanu, Simona Viorica et al.

Source: Life (2075-1729). Mar2025, Vol. 15 Issue 3, p497. 16p.

Non-Canonical, Extralysosomal Activities of Lysosomal Peptidases in Physiological and Pathological Conditions: New Clinical Opportunities for Cancer Therapy.

Authors: Conesa-Bakkali, Ryan Morillo-Huesca, Macarena Martínez-Fábregas, Jonathan

Source: Cells (2073-4409). Jan2025, Vol. 14 Issue 2, p68. 34p.

The conserved protein DopA is required for growth, drug tolerance and virulence in Aspergillus fumigatus.

Authors: Wei, Qian He, Cong Peng, Xinyuan et al.

Source: World Journal of Microbiology & Biotechnology. Jan2025, Vol. 41 Issue 1, p1-12. 12p.

Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD.

Authors: Ge, Haijun Zhou, Wangji He, Miao et al.

Source: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-10. 10p.

Genetics and Neurobiology of Treatment-Resistant Depression—A Review.

Authors: Płaza, Olga Gałecki, Piotr Bliźniewska-Kowalska, Katarzyna et al.

Source: International Journal of Molecular Sciences. Nov2025, Vol. 26 Issue 22, p11016. 21p.