Eradicating Deafness? Genetics, Pathology, and Diversity in Twentieth Century America by Marion Andrea Schmidt (review).

Autor: Mondelli, Frank (AUTHOR)

Publikováno v: Bulletin of the History of Medicine. Winter2021, Vol. 95 Issue 4, p1-3. 3p.

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma

Autor: Zlatko Marušić, Sofia Y. Chen, Alena Pance, Nicolas De Saint Aubain, Boštjan Luzar, Marie S Abi Daoud, Arno Rütten, Francesca Butera, Sandra Louzada, Thomas Mentzel, Louise van der Weyden, Carla Daniela Robles-Espinoza, Paul W. Harms, Michiel P J van der Horst, Steven D. Billings, Jason L. Hornick, Chris Bakal, Thomas Brenn, Ingrid Ferreira, Jennifer S. Ko, James Hewinson, David J. Adams, Guia Cerretelli, Rajiv M. Patel, Mark J. Arends, Mamunur Rashid

Publikováno v: Nature communications, 10 (1
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Rashid, M, van der Horst, M, Mentzel, T, Butera, F, Ferreira, I, Pance, A, Rütten, A, Luzar, B, Marusic, Z, de Saint Aubain, N, Ko, J S, Billings, S D, Chen, S, Abi-Daoud, M, Hewinson, J, Louzada, S, Harms, P W, Cerretelli, G, Robles-Espinoza, C D, Patel, R M, van der Weyden, L, Bakal, C, Hornick, J L, Arends, M J, Brenn, T & Adams, D J 2019, ' ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma ', Nature Communications, vol. 10, 2213 . https://doi.org/10.1038/s41467-019-09979-0
Nature Communications

Spiradenoma and cylindroma are distinctive skin adnexal tumors with sweat gland differentiation and potential for malignant transformation and aggressive behaviour. We present the genomic analysis of 75 samples from 57 representative patients includi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7805e8b278a80914f13e1620a57749e
https://doi.org/10.1038/s41467-019-09979-0

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

Autor: Chihiro Ohba, Akgun Olmez Turker, Burcu Albuz, Fabio Benfenati, Kazuhiro Ogata, Naomichi Matsumoto, Ashley L. Siniard, Keri Ramsey, Alessandro Esposito, Davide Mei, Carla Marini, Mitsuhiro Kato, Chris Balak, C Nur Semerci Gündüz, Renzo Guerrini, Vinodh Narayanan, Keiko Yanagihara, Elisa Belmonte, Mitsuko Nakashima, Valerio Conti, Masaaki Shiina, Anna Fassio, Nobuhiko Okamoto, Luca Maragliano, Hirotomo Saitsu

Publikováno v: Brain

Using whole exome sequencing, Fassio et al. identify de novo mutations in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental encephalopathies and epilepsy. Functional and expression studies demonstrate impaired lysosomal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0005eadc19e8dd317cbba9f60a0d1691
https://pubmed.ncbi.nlm.nih.gov/29668857

Expression of micro RNAs (miRNAs) in myelodysplastic syndrome (MDS)

Autor: Kardum Paro, Mirjana Mariana, Mandac Rogulj, Inga, Kaić, Gordana, Jelić Puškarić, Biljana, Kardum- Skelin, Ika, Škrtić, Anita, Ostojić kolonić, Slobodanka

Publikováno v: Liječnički vjesnik
Volume 141
Issue 7-8

Sindrom mijelodisplazije ili mijelodisplastični sindrom (MDS) naziv je za skupinu heterogenih klonskih hematoloških poremećaja hematopoetskih matičnih stanica, praćenih neučinkovitom hematopoezom jedne ili više staničnih linija i pojavom posl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7f4f9b3499749fb8c03027fe16e9ba96
https://hrcak.srce.hr/file/329040

MYC-driven regulation of long non-coding RNA profiles in breast cancer cells

Autor: Ayse Gaye Tomatir, Hakan Akca, Pervin Elvan Tokgun, Serap Kurt, Onur Tokgun

Aim MYC deregulation contributes to breast cancer development and progression. Deregulated expression levels of long non-coding RNAs (lncRNA) have been demonstrated to be critical players in development and/or maintenance of breast cancer. In this st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9589910e50c221628b0d2b6d38b42af9