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Literature summary for 3.4.22.B32 extracted from

  • Bochner, R.; Samuelov, L.; Sarig, O.; Li, Q.; Adase, C.A.; Isakov, O.; Malchin, N.; Vodo, D.; Shayevitch, R.; Peled, A.; Yu, B.D.; Fainberg, G.; Warshauer, E.; Adir, N.; Erez, N.; Gat, A.; Gottlieb, Y.; Rogers, T.; Pavlovsky, M.; Goldberg, I.; Shomron, N.; Sandilands, A.; Campbell, L.E.; MacCallum, S.; M, M.c.
    Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis (2017), J. Invest. Dermatol., 137, 385-393 .
    View publication on PubMed
Search for more literature for 3.4.22.B32

Application

Application Comment Organism
medicine in a patient with a paternal missense mutation (c.1511C>A; p.P504Q) and a maternal deletion due to activation of a cryptic splice site in exon 9 of the gene (c.1090_1129del; p.Val364Lysfs*11), filaggrin expression is almost absent in the skin Homo sapiens

Organism

Organism UniProt Comment Textmining
Danio rerio
-
-
-
Homo sapiens
-
-
-
Mus musculus
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
epidermis
-
 Homo sapiens
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epidermis
-
 Danio rerio
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epidermis
-
 Mus musculus
-
hair follicle of normal skin Homo sapiens
-

Synonyms

Synonyms Comment Organism
Capn12
-
 Homo sapiens
Capn12
-
 Danio rerio
Capn12
-
 Mus musculus

General Information

General Information Comment Organism
physiological function knockdown of CAPN12 in three-dimensional human skin models is associated with acanthosis, disorganized epidermal architecture, and downregulation of several differentiation markers, including filaggrin Homo sapiens
physiological function the downregulation of Capn12 expression in zebrafish is associated with abnormal epidermal morphogenesis Danio rerio
physiological function RNA knockdown of calpain 12 in skin from K14-H2B GFP mice leads to significant hair follicle catagen transformation compared with controls Mus musculus