Teenager with persistent facial edema and induration

Autor: Mónica Dávalos-Tanaka, Ma. Teresa García Romero

Publikováno v: Boletín Médico del Hospital Infantil de México, Vol 81, Iss 5 (2024)

Introduction: Acute lymphoblastic leukemia (ALL) is the most common oncological disease in the pediatric population; however, skin infiltration occurs only in 1-3% of the patients and almost always manifests after the diagnosis is made. Clinical case

Externí odkaz: https://doaj.org/article/59147dcfd01248de90eafe7179e75b3e

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Induction of endoplasmic reticulum calcium pump expression during early leukemic B cell differentiation

Autor: Lamia Aït Ghezali, Atousa Arbabian, Hervé Roudot, Jean-Philippe Brouland, Fanny Baran-Marszak, Evelyn Salvaris, Andrew Boyd, Hans G. Drexler, Agnes Enyedi, Remi Letestu, Nadine Varin-Blank, Bela Papp

Publikováno v: Journal of Experimental & Clinical Cancer Research, Vol 36, Iss 1, Pp 1-12 (2017)

Abstract Background Endoplasmic reticulum (ER) calcium storage and release play important roles in B lymphocyte maturation, survival, antigen-dependent cell activation and immunoglobulin synthesis. Calcium is accumulated in the endoplasmic reticulum

Externí odkaz: https://doaj.org/article/54b8d92a60fa4f74a3e8c016bbff81d4

Childhood Myelodysplastic Syndrome Progressing to Pre-B Acute Lymphoblastic Leukemia in Two Children with Trisomy 5 and Trisomy 8

Autor: Ahmet Koç, Baris Yilmaz

Publikováno v: Turkiye Klinikleri Journal of Pediatrics. 30:156-159

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ba014a41064b5d70f42e984caff5222f
https://doi.org/10.5336/pediatr.2020-80991

Novel CIC variants identified in individuals with neurodevelopmental phenotypes

Autor: Saloni, Sharma, Brenna, Hourigan, Zain, Patel, Jill A, Rosenfeld, Katie M, Chan, Michael F, Wangler, Joanna S, Yi, Anna, Lehman, Gabriella, Horvath, Paul A, Cloos, Qiumin, Tan

Publikováno v: Human mutation, 43(7), 889-899. Wiley-Liss Inc.
Sharma, S, Hourigan, B, Patel, Z, Rosenfeld, J A, Chan, K M, Wangler, M F, Yi, J S, Lehman, A, Horvath, G, Cloos, P A, Tan, Q & CAUSES Study 2022, ' Novel CIC variants identified in individuals with neurodevelopmental phenotypes ', Human Mutation, vol. 43, no. 7, pp. 889-899 . https://doi.org/10.1002/humu.24346

Heterozygous pathogenic variants in CIC, which encodes a transcriptional repressor, have been identified in individuals with neurodevelopmental phenotypes. To date, 11 CIC variants have been associated with the CIC-related neurodevelopmental syndrome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b752ec3e33682681add196fcf7f3d15d
https://pubmed.ncbi.nlm.nih.gov/35165976