Ichthyosis follicularis syndromes in patients with mutations in GJB2
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.15217
Abstract: Ichthyosis follicularis (IF) manifests as generalized spiny follicular projections found in syndromic diseases secondary to SREBF1 and MBTPS2 mutations. We sought the genetic cause of IF in two distinct families from a cohort of 180… read more here.
Keywords: follicularis syndromes; ichthyosis; ichthyosis follicularis; syndromes patients ... See more keywords
Distinct Phenotypes of Myeloid Neoplasia Associated with Truncating C-CBL Mutations
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DOI: 10.1182/blood-2024-209834
Abstract: Introduction. Canonical missense (MS) c-CBL mutations affecting linker and zinc finger domains impair protein ubiquitination function and are the most encountered in myeloid neoplasia (MN). However, c-CBL truncations can be also observed with consequential impairment… read more here.
Keywords: cbl mutations; patients mutations; distinct phenotypes; aml ... See more keywords
Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling.
Sign Up to like & getrecommendations! Published in 2023 at "Heliyon"
DOI: 10.2139/ssrn.4254449
Abstract: Sonic hedgehog (Shh) signaling pathways are known to play an important role in the morphological development of the hippocampus in vivo, but their actual roles in humans have not been clarified. Hypothalamic hamartoma (HH) is… read more here.
Keywords: gene; incomplete hippocampal; sonic hedgehog; patients mutations ... See more keywords