249 related articles for article (PubMed ID: 20691405)
1. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Brancati F; Fortugno P; Bottillo I; Lopez M; Josselin E; Boudghene-Stambouli O; Agolini E; Bernardini L; Bellacchio E; Iannicelli M; Rossi A; Dib-Lachachi A; Stuppia L; Palka G; Mundlos S; Stricker S; Kornak U; Zambruno G; Dallapiccola B
Am J Hum Genet; 2010 Aug; 87(2):265-73. PubMed ID: 20691405
[TBL] [Abstract][Full Text] [Related]
2. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.
Yoshida K; Hayashi R; Fujita H; Kubota M; Kondo M; Shimomura Y; Niizeki H
J Dermatol; 2015 Jul; 42(7):715-9. PubMed ID: 25913853
[TBL] [Abstract][Full Text] [Related]
3. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).
Jelani M; Chishti MS; Ahmad W
J Hum Genet; 2011 May; 56(5):352-7. PubMed ID: 21346770
[TBL] [Abstract][Full Text] [Related]
4. Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
Fortugno P; Josselin E; Tsiakas K; Agolini E; Cestra G; Teson M; Santer R; Castiglia D; Novelli G; Dallapiccola B; Kurth I; Lopez M; Zambruno G; Brancati F
J Invest Dermatol; 2014 Aug; 134(8):2146-2153. PubMed ID: 24577405
[TBL] [Abstract][Full Text] [Related]
5. A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
Florian R; Gruber R; Volc-Platzer B
Int J Dermatol; 2018 Feb; 57(2):223-226. PubMed ID: 29265343
[TBL] [Abstract][Full Text] [Related]
6. A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.
Raza SI; Nasser Dar R; Shah AA; Ahmad W
Ann Hum Genet; 2015 Mar; 79(2):92-8. PubMed ID: 25529316
[TBL] [Abstract][Full Text] [Related]
7. A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.
Ahmad F; Nasir A; Thiele H; Umair M; Borck G; Ahmad W
Ann Hum Genet; 2018 Jul; 82(4):232-238. PubMed ID: 29430627
[TBL] [Abstract][Full Text] [Related]
8. Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.
Rotunno R; Diociaiuti A; Dentici ML; Rinelli M; Callea M; Retrosi C; Zambruno G; Bellacchio E; El Hachem M
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34067522
[TBL] [Abstract][Full Text] [Related]
9. Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome.
Rodini ES; Richieri-Costa A
Am J Med Genet; 1990 Aug; 36(4):473-6. PubMed ID: 2167611
[TBL] [Abstract][Full Text] [Related]
10. A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Ali G; Sadia S; Ain-Ul-Batool S; Azeem Z; Awan NB; Kazmi SAR; Ur-Rehman Z; Anjum Z; Ur-Rehman F; Wali A; Khan K; Zaman N; Ayub M; Sajid M; Hassan N
Genet Res (Camb); 2023; 2023():9999660. PubMed ID: 37829154
[TBL] [Abstract][Full Text] [Related]
11. [Mutations in gene PVRL4 encoding for cell adhesion molecule Nectin-4 in ectodermal dysplasia-syndactyly syndrome].
Dereure O
Ann Dermatol Venereol; 2011 Feb; 138(2):159-60. PubMed ID: 21333831
[No Abstract] [Full Text] [Related]
12. A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
Hajra B; Abdullah ; Bibi N; Syed F; Ullah A; Ahmad W; Umm-E-Kalsoom
An Bras Dermatol; 2023; 98(5):580-586. PubMed ID: 37183149
[TBL] [Abstract][Full Text] [Related]
13. Nectinopathies: an emerging group of ectodermal dysplasia syndromes.
Brancati F; Agolini E; Fortugno P
G Ital Dermatol Venereol; 2013 Feb; 148(1):59-64. PubMed ID: 23407077
[TBL] [Abstract][Full Text] [Related]
14. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
Suzuki K; Hu D; Bustos T; Zlotogora J; Richieri-Costa A; Helms JA; Spritz RA
Nat Genet; 2000 Aug; 25(4):427-30. PubMed ID: 10932188
[TBL] [Abstract][Full Text] [Related]
15. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Petrof G; Nanda A; Howden J; Takeichi T; McMillan JR; Aristodemou S; Ozoemena L; Liu L; South AP; Pourreyron C; Dafou D; Proudfoot LE; Al-Ajmi H; Akiyama M; McLean WH; Simpson MA; Parsons M; McGrath JA
Am J Hum Genet; 2014 Sep; 95(3):308-14. PubMed ID: 25152456
[TBL] [Abstract][Full Text] [Related]
16. Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.
Martínez B; Monasterio L; Pinheiro M; Freire-Maia N
Am J Med Genet; 1987 May; 27(1):23-31. PubMed ID: 3037904
[TBL] [Abstract][Full Text] [Related]
17. Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings.
Mohammad A
Dermatol Online J; 2015 Jan; 21(1):. PubMed ID: 25612123
[TBL] [Abstract][Full Text] [Related]
18. Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3.
Tariq M; Khan MN; Ahmad W
Hum Genet; 2009 May; 125(4):421-9. PubMed ID: 19221800
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Gollasch B; Basmanav FB; Nanda A; Fritz G; Mahmoudi H; Thiele H; Wehner M; Wolf S; Altmüller J; Nürnberg P; Frank J; Betz RC
Am J Med Genet A; 2015 Nov; 167A(11):2555-62. PubMed ID: 26129644
[TBL] [Abstract][Full Text] [Related]
20. p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.
Mollo MR; Antonini D; Mitchell K; Fortugno P; Costanzo A; Dixon J; Brancati F; Missero C
Exp Dermatol; 2015 Feb; 24(2):114-9. PubMed ID: 25387952
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]