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Page 1
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. Gergics P, et al. Among authors: martinez mayer j. Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15. Am J Hum Genet. 2021. PMID: 34270938 Free PMC article.
From Pituitary Stem Cell Differentiation to Regenerative Medicine.
Camilletti MA, Martinez Mayer J, Vishnopolska SA, Perez-Millan MI. Camilletti MA, et al. Among authors: martinez mayer j. Front Endocrinol (Lausanne). 2021 Jan 19;11:614999. doi: 10.3389/fendo.2020.614999. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33542708 Free PMC article. Review.
Knockout mice with pituitary malformations help identify human cases of hypopituitarism.
Martinez-Mayer J, Brinkmeier ML, O'Connell SP, Ukagwu A, Marti MA, Miras M, Forclaz MV, Benzrihen MG, Cheung LYM, Camper SA, Ellsworth BS, Raetzman LT, Pérez-Millán MI, Davis SW. Martinez-Mayer J, et al. Genome Med. 2024 May 31;16(1):75. doi: 10.1186/s13073-024-01347-y. Genome Med. 2024. PMID: 38822427 Free PMC article.
Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.
Martinez-Mayer J, Vishnopolska S, Perticarari C, Iglesias Garcia L, Hackbartt M, Martinez M, Zaiat J, Jacome-Alvarado A, Braslavsky D, Keselman A, Bergadá I, Marino R, Ramírez P, Pérez Garrido N, Ciaccio M, Di Palma MI, Belgorosky A, Forclaz MV, Benzrihen G, D'Amato S, Cirigliano ML, Miras M, Paez Nuñez A, Castro L, Mallea-Gil MS, Ballarino C, Latorre-Villacorta L, Casiello AC, Hernandez C, Figueroa V, Alonso G, Morin A, Guntsche Z, Lee H, Lee E, Song Y, Marti MA, Perez-Millan MI. Martinez-Mayer J, et al. J Clin Endocrinol Metab. 2024 Nov 18;109(12):3196-3210. doi: 10.1210/clinem/dgae320. J Clin Endocrinol Metab. 2024. PMID: 38717911
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J. Hannes L, et al. Among authors: martinez mayer j. Genet Med. 2024 Apr;26(4):101059. doi: 10.1016/j.gim.2023.101059. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158857