Format
Sort by
Items per page

Send to

Choose Destination

Links from Gene

Items: 1 to 20 of 176

1.

Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.

Yan Y, Meng Z, Hao S, Wang F, Jin X, Sun D, Gao H, Ma X.

Ann Clin Lab Sci. 2018 Jan;48(1):100-105.

PMID:
29531004
2.

Type VII Collagen in the Human Accommodation System: Expression in Ciliary Body, Zonules, and Lens Capsule.

Wullink B, Pas HH, Van der Worp RJ, Schol M, Janssen SF, Kuijer R, Los LI.

Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):1075-1083. doi: 10.1167/iovs.17-23425.

PMID:
29490344
3.

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.

Saeidian AH, Youssefian L, Moreno Trevino MG, Fortuna G, Vahidnezhad H, Atanasova VS, Uitto J, Salas-Alanis JC, South AP.

Clin Exp Dermatol. 2018 Jul;43(5):579-584. doi: 10.1111/ced.13407. Epub 2018 Feb 23.

PMID:
29473190
4.

Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.

Knöpfel N, Noguera-Morel L, Hernández-Martin A, García-Martin A, García M, Mencía Á, Pedrero RM, de Lucas R, Escámez MJ, Torrelo A.

Pediatr Dermatol. 2018 Mar;35(2):e94-e98. doi: 10.1111/pde.13367. Epub 2017 Dec 22.

PMID:
29272047
5.

Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.

Guerra L, Condorelli AG, Fortugno P, Calabresi V, Pedicelli C, Di Zenzo G, Castiglia D.

Acta Derm Venereol. 2018 Apr 16;98(4):411-415. doi: 10.2340/00015555-2851.

6.

COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.

Hainzl S, Peking P, Kocher T, Murauer EM, Larcher F, Del Rio M, Duarte B, Steiner M, Klausegger A, Bauer JW, Reichelt J, Koller U.

Mol Ther. 2017 Nov 1;25(11):2573-2584. doi: 10.1016/j.ymthe.2017.07.005. Epub 2017 Jul 13.

7.

A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa.

Wu N, Jin L, Wang G.

Clin Lab. 2017 Jan 1;63(1):157-161. doi: 10.7754/Clin.Lab.2016.160705.

PMID:
28164502
8.

Stromal microenvironment in type VII collagen-deficient skin: The ground for squamous cell carcinoma development.

Guerra L, Odorisio T, Zambruno G, Castiglia D.

Matrix Biol. 2017 Nov;63:1-10. doi: 10.1016/j.matbio.2017.01.002. Epub 2017 Jan 24. Review.

PMID:
28126522
9.

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

Vahidnezhad H, Youssefian L, Zeinali S, Saeidian AH, Sotoudeh S, Mozafari N, Abiri M, Kajbafzadeh AM, Barzegar M, Ertel A, Fortina P, Uitto J.

J Invest Dermatol. 2017 Mar;137(3):660-669. doi: 10.1016/j.jid.2016.10.023. Epub 2016 Oct 27.

10.

A novel glycine substitution mutation in the COL7A1 gene in two Scottish families with dominant dystrophic epidermolysis bullosa presenting with milia on the hands and feet.

Caruana DM, Dawn G, Jury C.

Clin Exp Dermatol. 2016 Dec;41(8):921-922. doi: 10.1111/ced.12913. Epub 2016 Oct 27. No abstract available.

PMID:
27790721
11.

A non-viral gene therapy for treatment of recessive dystrophic epidermolysis bullosa.

Cutlar L, Zhou D, Hu X, Duarte B, Greiser U, Larcher F, Wang W.

Exp Dermatol. 2016 Oct;25(10):818-20. doi: 10.1111/exd.13054. Epub 2016 Jun 30. No abstract available.

PMID:
27117059
12.

Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa.

Izmiryan A, Danos O, Hovnanian A.

J Invest Dermatol. 2016 Apr;136(4):872-5. doi: 10.1016/j.jid.2015.11.028. Epub 2016 Feb 17. No abstract available.

13.

Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation.

Turczynski S, Titeux M, Pironon N, Cohn HI, Murrell DF, Hovnanian A.

Br J Dermatol. 2016 May;174(5):1122-5. doi: 10.1111/bjd.14312. Epub 2016 Feb 3. No abstract available.

PMID:
26595603
14.

One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.

Khaniani MS, Sohrabi N, Derakhshan NM, Derakhshan SM.

Ann Clin Lab Sci. 2015 Fall;45(5):582-4.

PMID:
26586712
15.

Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC.

Martins VL, Caley MP, Moore K, Szentpetery Z, Marsh ST, Murrell DF, Kim MH, Avari M, McGrath JA, Cerio R, Kivisaari A, Kähäri VM, Hodivala-Dilke K, Brennan CH, Chen M, Marshall JF, O'Toole EA.

J Natl Cancer Inst. 2015 Oct 16;108(1). pii: djv293. doi: 10.1093/jnci/djv293. Print 2016 Jan.

PMID:
26476432
16.

Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa.

Masunaga T, Saito M, Sasaki T, Kubo A, Amagai M, Ishiko A.

J Dermatol Sci. 2015 Dec;80(3):220-3. doi: 10.1016/j.jdermsci.2015.09.011. Epub 2015 Oct 9. No abstract available.

PMID:
26472200
17.

Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for the COL7A1 mutation p.Gly2043Arg in the pregnant mother.

Shen J, Zhang J, Wang Z, Ni C, Li H, Cheng R, Liang J, Li M, Yao Z.

J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1627-9. doi: 10.1111/jdv.13229. Epub 2015 Aug 20. No abstract available.

PMID:
26289024
18.

Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies.

Woodley DT, Chen M.

J Invest Dermatol. 2015 Jul;135(7):1705-1707. doi: 10.1038/jid.2015.149. Review. No abstract available.

19.

Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.

Boccaletti V, Zambruno G, Castiglia D, Magnani C, Tognetti E, Fabrizi G, Cortelazzi C, Pagliarello C, Di Nuzzo S.

Pediatr Dermatol. 2015 Mar-Apr;32(2):e42-7. doi: 10.1111/pde.12513. Epub 2015 Jan 30. Review.

PMID:
25639640
20.

Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus.

Chen Q, Lee JS, Tey HL.

Indian J Dermatol Venereol Leprol. 2015 Jan-Feb;81(1):40-2. doi: 10.4103/0378-6323.148565.

Supplemental Content

Support Center