A novel mutation in a CARD14-associated papulosquamous eruption. | A novel mutation in a CARD14-associated papulosquamous eruption. Li N, Tao J, Zhang J, Liu Z, Yu P. | 07/20/2023 |
Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis. | Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis. Trai NN, Van Em D, Van BT, My LH, Van Tro C, Hao NT, Vu HA, Tram DB, Van Thuong N, Doanh LH. | 06/23/2023 |
Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis. | Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis. Niaouris A, Hernández-Cordero A, Haddad S, Hassi NK, Benzian-Olsson N, Bugarin Diz C, Burden AD, Cooper HL, Griffiths CEM, Parslew R, Pink AE, Reynolds NJ, Wahie S, Warren RB, Wright A, Simpson M, Baum P, Visvanathan S, Barker JN, Smith CH, Capon F, APRICOT and PLUM study team. | 02/27/2023 |
Association between CARD14 gene polymorphisms and psoriasis vulgaris in Hainan Han population based on exon sequencing: A case-control study. | Association between CARD14 gene polymorphisms and psoriasis vulgaris in Hainan Han population based on exon sequencing: A case-control study. Msafiri Makene A, Liu JL., Free PMC Article | 10/22/2022 |
Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis. | Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis. Suleman S, Chhabra G, Raza R, Hamid A, Qureshi JA, Ahmad N., Free PMC Article | 09/3/2022 |
Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis. | Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis. DeVore SB, Stevens ML, He H, Biagini JM, Kroner JW, Martin LJ, Khurana Hershey GK., Free PMC Article | 05/21/2022 |
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran. | GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran. Abbaspour Rodbaneh E, Panahi M, Rahimi B, Mokabber H, Farajollahi R, Davarnia B., Free PMC Article | 02/26/2022 |
CARD14-associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature. | CARD14-associated papulosquamous eruption (CAPE) in pediatric patients: Three additional cases and review of the literature. Frare CP, Blumstein AJ, Paller AS, Pieretti L, Choate KA, Bowcock AM, Larralde M., Free PMC Article | 12/4/2021 |
Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis. | Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis. Huang Y, Zhang C, Tao L, Zhou J, Zhu J, Yan K, Han L, Huang Q, Shi J, Zhang Z. | 07/10/2021 |
Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism. | Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism. Miyauchi T, Suzuki S, Takeda M, Peh JT, Aiba M, Natsuga K, Fujita Y, Takeichi T, Sakamoto T, Akiyama M, Shimizu H, Nomura T., Free PMC Article | 07/3/2021 |
Two cases of CARD14-associated papulosquamous eruption from India. | Two cases of CARD14-associated papulosquamous eruption from India. Chiramel MJ, Sathishkumar D, Edison ES, George R. | 06/19/2021 |
UBAC1/KPC2 Regulates TLR3 Signaling in Human Keratinocytes through Functional Interaction with the CARD14/CARMA2sh-TANK Complex. | UBAC1/KPC2 Regulates TLR3 Signaling in Human Keratinocytes through Functional Interaction with the CARD14/CARMA2sh-TANK Complex. Mazzone P, Congestrì M, Scudiero I, Polvere I, Voccola S, Zerillo L, Telesio G, Vito P, Stilo R, Zotti T., Free PMC Article | 03/6/2021 |
Histopathologic findings characteristic of CARD14-associated papulosquamous eruption. | Histopathologic findings characteristic of CARD14-associated papulosquamous eruption. Ring NG, Craiglow BG, Panse G, Antaya RJ, Ashack K, Ashack R, Faith EF, Paller AS, McNiff JM, Choate KA, Ko CJ. | 01/23/2021 |
CARD14/CARMA2sh and TANK differentially regulate poly(I:C)-induced inflammatory reaction in keratinocytes. | CARD14/CARMA2sh and TANK differentially regulate poly(I:C)-induced inflammatory reaction in keratinocytes. Voccola S, Polvere I, Madera JR, Paolucci M, Varricchio E, Telesio G, Porcaro P, Vito P, Stilo R, Zotti T. | 12/19/2020 |
CARD14 regulates the proliferation and migration of MCF7 and SK-BR-3 cells; it is thus, a novel potential therapeutic target in breast cancer | Knockdown of CARD14 Inhibits Cell Proliferation and Migration in Breast Cancer Cells. Lim JY, Kim SW, Kim B, Park SJ. | 04/11/2020 |
Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation. | Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity. Sundberg JP, Pratt CH, Silva KA, Kennedy VE, Qin W, Stearns TM, Frost J, Sundberg BA, Bowcock AM., Free PMC Article | 02/29/2020 |
Study performed a comparative analysis of CARD14 variants between generalized pustular psoriasis (GPP) subtypes in a Chinese Han descent population. Results suggest that GPP with psoriasis vulgaris (PV) and GPP alone have a different CARD14 genetic background and CARD14 variants may play an essential role in the pathogenesis of PV-related disease. | Variants of CARD14 are predisposing factors for generalized pustular psoriasis (GPP) with psoriasis vulgaris but not for GPP alone in a Chinese population. Li L, You J, Fu X, Wang Z, Sun Y, Liu H, Zhang F. | 02/15/2020 |
The authors found a CARD14 gain of function mutations associated with diffuse erythrodermic psoriasis in a pair of dizygotic twins. Mutations in CARD14 should always be considered in severe childhood onset psoriasis. | Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab. Signa S, Campione E, Rusmini M, Chiesa S, Grossi A, Omenetti A, Caorsi R, Viglizzo GM, Galluzzo M, Bianchi L, Talamonti M, Orlandi A, Martini A, Ceccherini I, Gattorno M., Free PMC Article | 01/18/2020 |
Our data indicate that there is a significant association between CARD14 mutation and palmoplantar pustulosis. Three novel, rare heterozygous missense variants, c.149G > A (p.Cys50Tyr), c.1436C > G (p.Pro479Arg), and c.1942G > A (p.Gly648Ser), were found in CARD14 exons (RefSeqNM_024110.4). | Rare CARD14 missense variants associated with palmoplantar pustulosis (PPP) in the Chinese Han population. Fu F, Sun Y, Zhao Q, Yu G, Yang Q, Liu H, Zhang F. | 12/14/2019 |
data support the previous observation that CARD14 genetic variants are not specific to pityriasis rubra pilaris, although they may indicate chronic inflammation | The management and genetic background of pityriasis rubra pilaris: a single-centre experience. Gál B, Göblös A, Danis J, Farkas K, Sulák A, Varga E, Nagy N, Széll M, Kemény L, Bata-Csörgő Z. | 12/14/2019 |
Although dominant gain-of-function mutations in CARD14 are associated with psoriasis and related diseases, loss-of-function mutations in the same gene are associated with a severe variant of Atopic dermatitis. | Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis. Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E. | 11/16/2019 |
Review provides an overview on the molecular mechanisms mediating CARD14/CARMA2 signaling and its implication in understanding of the pathogenesis of human inflammatory skin disorders. | CARD14/CARMA2 Signaling and its Role in Inflammatory Skin Disorders. Zotti T, Polvere I, Voccola S, Vito P, Stilo R., Free PMC Article | 10/26/2019 |
The results illustrate that the positive response to treatment with ustekinumab in both the mother and son highlights the efficacy of this biological therapy in PRP, with the discovery of an underlying mutation in CARD14 being the driver towards pursuing this particular targeted anti-inflammatory therapy. | Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. Lwin SM, Hsu CK, Liu L, Huang HY, Levell NJ, McGrath JA. | 09/14/2019 |
CARD14 mutations are independently associated with psoriasis and familial PRP, providing a pathophysiologic link between these disorders. The subjects in this series provide striking clinical evidence for this connection and display findings characteristic of both PRP and psoriasis. | CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA., Free PMC Article | 01/5/2019 |
Results identified RNF7 to interact with CARMA2 regulating its NF-kappaB-activating capacity. Mechanistically, RNF7 influences CARMA2 signaling by regulating the ubiquitination state of MALT1 and the NF-kappaB-regulatory molecule NEMO. Interestingly, CARMA2short (CARMA2sh) mutants associated with psoriasis susceptibility escape the negative control exerted by RNF7. | The E3 Ubiquitin Ligase RNF7 Negatively Regulates CARD14/CARMA2sh Signaling. Telesio G, Scudiero I, Pizzulo M, Mazzone P, Zotti T, Voccola S, Polvere I, Vito P, Stilo R., Free PMC Article | 07/14/2018 |