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1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

SA Vishnopolska , MF Mercogliano , MA Camilletti , AH Mortensen , D Braslavsky , A Keselman , I Bergada , F Olivieri , L Miranda , R Marino , P Ramirez , GN Perez , H Patino Mejia , M Ciaccio , MI Di Palma , A Belgorosky , A Marti Marcelo , JO Kitzman , SA Camper , MI Perez-Millan

J Clin Endocrinol Metab. 2021 Mar 17:dgab177. doi: 10.1210/clinem/dgab177. PMID: 33729509.Vishnopolska et al. conducted a comprehensive evaluation of 67 hypopituitarism candidate genes in 170 congenital hypopituitarism (CH) patients from Argentina by using small molecule molecular inversion probes followed by sequencing (smMIPS) panel. 57 patients had isolated growth hormone defici...

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ey0015.4-12 | New mechanisms | ESPEYB15

4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

M Gutiérrez , P Scaglia , A Keselman , L Martucci , L Karabatas , S Domené , A Martin , P Pennisi , M Blanco , N Sanguineti , L Bezrodnik , D Di Giovanni , MS Caldirola , ME Azcoiti , MI Gaillard , LA Denson , K Zhang , A Husami , NH Yayah Jones , V Hwa , S Revale , M Vázquez , H Jasper , A Kumar , H Domené

To read the full abstract: Mol Cell Endocrinol 2018; 15;473:166-177Signal transducers and activators of transcription (STAT) proteins are transcription factors transiently activated by different ligands such as cytokines, growth factors, or peptides, which trigger intracellular tyrosine phosphorylation along the JAK-STAT signaling pathway. Phosphorylated STAT induces...

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ey0019.1-6 | Genetics | ESPEYB19

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

P Gergics , C Smith , H Bando , AAL Jorge , D Rockstroh-Lippold , SA Vishnopolska , F Castinetti , M Maksutova , LRS Carvalho , J Hoppmann , Mayer J Martinez , F Albarel , D Braslavsky , A Keselman , I Bergada , MA Marti , A Saveanu , A Barlier , Jamra R Abou , MH Guo , A Dauber , M Nakaguma , BB Mendonca , SN Jayakody , AB Ozel , Q Fang , Q Ma , JZ Li , T Brue , Millan MI Perez , IJP Arnhold , R Pfaeffle , JO Kitzman , SA Camper

Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. PMID: 34270938.Brief Summary: This study reports splice-disruptive variants in POU1F1 in 4 families with hypopituitarism and uses a high-throughput splicing reporter assay to create a comprehensive catalogue of such variants in or near exon 2 of the gene. The catalogue paves the way for identifying synon...

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ESPE Yearbook of Paediatric Endocrinology

1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

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