Results 111 to 120 of about 3,777 (193)

Case Report: Successful treatment of dystrophic epidermolysis bullosa pruriginosa with upadacitinib in a patient with <i>COL7A1</i>, <i>CARD14</i>, and <i>G6PD</i> gene mutations. [PDF]

Front Med (Lausanne)
Li H, Zhang Y, Lin X, Yan T, Wu X, Zhang Z.   +5 more
europepmc   +1 more source

Novel COL7A1 Mutations of Hallopeau-Siemens Type Recessive Dystrophic Epidermolysis [PDF]

application/pdfDystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A] gene encoding type VII collagen. DEB is clinically characterized by mucocutaneous blistering in response to minor trauma.
Murai, Takaya, Nakano, Hajime, Hashimoto, Isao, Sawamura, Daisuke, Tamai, Katsuto, Hanada, Katsumi   +5 more
core  

Single-cell transcriptomics profiling elucidates RBP-driven metastatic signaling pathways in ER⁺ breast cancer. [PDF]

iScience
Dong M, Li X, Yang S, Li S, Liu Z, Peng C, Li R, Liang W, Li X, Bai J.   +9 more
europepmc   +1 more source

Leveraging Whole-Exome Sequencing to Decipher the Genetic Landscape of Three Genodermatoses' Cases in Middle Eastern Pediatric Patients. [PDF]

Genes (Basel)
Kadhi A, Akl PA, Abbas O, El-Tayar E, Nemer G, Kurban M.   +5 more
europepmc   +1 more source

Developing CRISPR-Based Therapies for Epidermolysis Bullosa: A Comprehensive Review of Current Strategies. [PDF]

Drugs
du Rand A, Buttle B, Sheppard H.
europepmc   +1 more source

Clinical and molecular spectrum of inherited epidermolysis bullosa in a Thai cohort: A 12-year retrospective study. [PDF]

JAAD Int
Supsrisunjai C, Tirachaimongkol N, Bunnag T, Sengtae N, Tongsima S, Ngamphiw C, Komkhong W, Kootiratrakarn T, Wessagowit V, Kantaputra P.   +9 more
europepmc   +1 more source

Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Gug C, Jurca AA, Popoiu TA, Patrascu R, Roman PA, Olteanu L, Andreescu N.   +7 more
europepmc   +1 more source

Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family

Human Genome Variation, 2022
Nguyen Thuy Duong, Luong Thi Lan Anh, Nguyen Huu Sau, Nguyen Bao Anh, Noriko Miyake, Nong Van Hai, Naomichi Matsumoto   +6 more
openaire   +2 more sources

Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa [PDF]

Journal of Investigative Dermatology, 2016
Izmiryan, Araksya, Danos, Olivier, Hovnanian, Alain   +2 more
openaire   +2 more sources

Therapeutic potential of recombinant human collagen XVII in blue light-induced skin photoaging: preserving epidermal-dermal structural integrity and functional homeostasis. [PDF]

Front Bioeng Biotechnol
Wang X, Zhang L, Li Q, Ao J, Zhang X, Yang X, Li J, Sui S, Ge G, Li H, Yang R.   +10 more
europepmc   +1 more source