A Rare Case of TP63 -Associated Lymphopenia Revealed by Newborn Screening Using TREC.

Autor: Marakhonov, Andrey¹ (AUTHOR) efimova.geneticist@gmail.com, Serebryakova, Elena² (AUTHOR) el.a.serebryakova@mail.ru, Mukhina, Anna³ (AUTHOR) ffmanya@yandex.ru, Vechkasova, Anastasia² (AUTHOR) vechkasova.nastia@mail.ru, Prokhorov, Nikolai⁴ (AUTHOR) niprokho@iu.edu, Efimova, Irina¹ (AUTHOR) balinovs@mail.ru, Balinova, Natalia¹ (AUTHOR) vasilyeva_debrie@mail.ru, Lobenskaya, Anastasia² (AUTHOR) lobenskaya@mail.ru, Vasilyeva, Tatyana¹ (AUTHOR) zabnenkova.vv@gmail.com, Zabnenkova, Victoria¹ (AUTHOR) ryzhkova@dnalab.ru, Ryzhkova, Oxana¹ (AUTHOR) renazinchenko@mail.ru, Rodina, Yulia³ (AUTHOR) rodina.julija@rambler.ru, Pershin, Dmitry³ (AUTHOR) dimprsh@icloud.com, Soloveva, Nadezhda⁵ (AUTHOR) nadia82@bk.ru, Fomenko, Anna⁵ (AUTHOR) fomenkoanna8515@gmail.com, Saydaeva, Djamila⁶ (AUTHOR) saydaeva78@mail.ru, Ibisheva, Aset⁶ (AUTHOR) ibisheva18@mail.ru, Irbaieva, Taisiya⁷ (AUTHOR) irbaieva_mz@mail.ru, Koroteev, Alexander² (AUTHOR) alexkoroteev@mail.ru, Zinchenko, Rena¹ (AUTHOR) voronin.sv@med-gen.ru

Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10844. 10p.

Small cell pattern of ALK‐negative anaplastic large cell lymphoma with double‐hit rearrangements of DUSP22 and TP63

Autor: Yui Niiyama‐Uchibori, Shinsuke Mizutani, Taku Tsukamoto, Haruya Okamoto, Daisuke Ide, Akio Onishi, Daishi Kato, Takahiro Fujino, Yuji Shimira, Aya Miyagawa‐Hayashino, Eiichi Konishi, Kennosuke Karube, Yasuhito Nannya, Junya Kuroda

Publikováno v: eJHaem, Vol 5, Iss 4, Pp 798-801 (2024)

Abstract In ALK‐negative anaplastic large cell lymphoma (ALCL), gene rearrangements of DUSP22 and TP63 are considered mutually exclusive. The former predicts a favorable prognosis, while the latter is generally unfavorable. We report the first case

Externí odkaz: https://doaj.org/article/d6c191da8c874987bff4280cefb003d4

Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia

Autor: Alevtina Gall, Marita Bosticardo, Stacey Ma, Karin Chen, Kayla Amini, Francesca Pala, Ottavia M. Delmonte, Tara Wenger, Michael Bamshad, John Sleasman, Matthew Blessing, Nicolai S. C. van Oers, Luigi D. Notarangelo, M. Teresa de la Morena

Publikováno v: Frontiers in Immunology, Vol 15 (2024)

Pathogenic variants in the transcription factor TP63 are associated with clinically overlapping syndromes including ectrodactyly-ectodermal dysplasia clefting (EEC) and ankyloblepharon-ectodermal defects-cleft lip/palate (AEC). T cell lymphopenia has

Externí odkaz: https://doaj.org/article/f3b40d2853fc4c849e9c6fd59b40708d

Meta-analysis of genome-wide association studies for cancer therapy-related cardiovascular dysfunction and functional mapping highlight an intergenic region close to TP63.

Autor: Martínez-Campelo, L.¹ (AUTHOR) laura_94.mc@hotmail.com, Blanco-Verea, A.¹ (AUTHOR), López-Fernández, T.² (AUTHOR), Martínez-Monzonís, A.³ (AUTHOR), Buño, A.⁴ (AUTHOR), Mazón, P.³ (AUTHOR), Zamora, P.⁵ (AUTHOR), Norton, N.⁶ (AUTHOR), Reddy, J. S.⁷ (AUTHOR), Velasco-Ruiz, A.⁸ (AUTHOR), González-Neira, A.⁸ (AUTHOR), Vulsteke, C.^9,10 (AUTHOR), Alonso-Gordoa, T.¹¹ (AUTHOR), Cruz, R.¹² (AUTHOR), Diz-de Almeida, S.¹² (AUTHOR), Carracedo, A.^12,13 (AUTHOR), González-Juanatey, JR.³ (AUTHOR), López-Sendón, J.¹⁴ (AUTHOR), Brion, M.^1,3 (AUTHOR), Sendón, José López¹⁴ (AUTHOR)

Publikováno v: Scientific Reports. 8/8/2024, Vol. 14 Issue 1, p1-10. 10p.

TP63 truncating mutation causes increased cell apoptosis and premature ovarian insufficiency by enhanced transcriptional activation of CLCA2

Autor: Yali Fan, Shuya Chen, Chunfang Chu, Xiaodan Yin, Jing Jin, Lingyan Zhang, Huihui Yan, Zheng Cao, Ruixia Liu, Mingwei Xin, Lin Li, Chenghong Yin

Publikováno v: Journal of Ovarian Research, Vol 17, Iss 1, Pp 1-17 (2024)

Abstract Background Premature ovarian insufficiency (POI) is a severe disorder leading to female infertility. Genetic mutations are important factors causing POI. TP63-truncating mutation has been reported to cause POI by increasing germ cell apoptos

Externí odkaz: https://doaj.org/article/ff0b246776f94482b6921ed3a060baaa