Results 51 to 60 of about 3,777 (193)

COL7A1 mutation analysis.

, 2012
Electropherograms of the COL7A1 c.4756C>T mutation. Representative sequence traces of PCR products amplified from genomic DNA of 3 cattle with the different genotypes are shown.
Monika Welle (159144), Cord Drögemüller (132266), Annie Menoud (159139), Jens Tetens (132258), Peter Lichtner (132255)   +4 more
core   +1 more source

Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease

Disease Models & Mechanisms, 2021
Heterozygous missense mutations in the human COL7A1 gene – coding for collagen VII – lead to the rare, dominantly inherited skin disorder dominant dystrophic epidermolysis bullosa (DDEB), which is characterised by skin fragility, blistering, scarring and
Blake R. C. Smith, Alexander Nyström, Cameron J. Nowell, Ingrid Hausser, Christine Gretzmeier, Susan J. Robertson, George A. Varigos, Cristina Has, Johannes S. Kern, Ken C. Pang   +9 more
doaj   +1 more source

Evolving Pathology of Anaplastic Thyroid Carcinoma: Integrating Morphology, Immunohistochemistry, and Molecular Insights

Cancer Science, EarlyView.
Schematic overview of progression from differentiated thyroid carcinoma (DTC) to anaplastic thyroid carcinoma (ATC). ATC primarily develops via two pathways: the BRAF p.V600E‐mutated papillary thyroid carcinoma (PTC) pathway and the RAS‐mutated pathway. The origin and progression of BRAF/RAS‐wildtype ATC remain unclear.
Toru Odate, Tetsuo Kondo
wiley   +1 more source

Organ‐Specific Cancer‐Associated Fibroblast Subtypes Across the Digestive System Linked to Cancer Hallmarks

Cancer Science, EarlyView.
We integrated 14 single‐cell RNA‐seq datasets and 18 bulk cohorts to define eight CAF subtypes in GI cancers. myCAF1 and myCAF2 promoted immunosuppressive, poor‐prognosis niches, whereas iCAF1 was linked to favorable prognosis and antitumor immunity.
Huaitao Wang, Takashi Semba, Atsuko Yonemura, Hiroshi Naito, Lingfeng Fu, Takuya Tajiri, Masaaki Iwatsuki, Takatsugu Ishimoto   +7 more
wiley   +1 more source

Increased Genetic Instability in Exfoliated Oral Cells in Patients With Epidermolysis Bullosa

Oral Diseases, EarlyView.
ABSTRACT Objective To analyze the nuclear abnormalities of cytotoxicity—karyorrhexis (KR), karyolysis (KL), and pyknosis (PN)—and genotoxicity—micronucleus (MN) in exfoliated cells from different sites of the oral mucosa in patients with Epidermolysis Bullosa (EB) and a control group.
Ana Carolina Sias Franco Franzosi, Rebeca Ferreira Badaró, Lucas Fernandes Leal, Rosalie Matuk Fuentes Torrelio, Willian Grassi Bautz, Leticia Nogueira da Gama‐de‐Souza   +5 more
wiley   +1 more source

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa

Pediatric Dermatology, EarlyView.
ABSTRACT Background/Objectives Recessive dystrophic epidermolysis bullosa inversa (RDEB‐I) is a rare subtype of dystrophic epidermolysis bullosa (EB) characterized by intertriginous cutaneous involvement and frequent mucosal disease. Although mucosal involvement is recognized in RDEB‐I, its cumulative clinical burden remains poorly defined.
Valerie R. Stichert, Nichole Halliburton, Sarah Crawford, Jennifer Phillips, Kalyani S. Marathe, Beth A. Moeves   +5 more
wiley   +1 more source

Allelic Heterogeneity of Dominant and Recessive COL7A1 Mutations Underlying Epidermolysis Bullosa Pruriginosa

, 1999
The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations. We studied six unrelated patients with a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa ...
Salas-Alanis, Julio C., Eady, Robin A.J., Mohammedi, Rafik, Mellerio, Jemima E., Ashton, Gabrielle H.S., Black, Martin M., Harman, Karen E., McGrath, John A., Griffiths, W. Andrew D., Kirby, Brian, Atherton, David J., Harrison, Phillip V., Lyon, Calum C.   +12 more
core   +1 more source

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

Molecular Genetics & Genomic Medicine, 2022
Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability.
Li‐min Cui, Jian‐ye Jiang, Ning‐ning Hu, Hong‐en Zou, Bao‐zhen Zhao, Cong‐ying Han, Kai Yang, Yi‐peng Wang, Huan‐xia Xing   +8 more
doaj   +1 more source

Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families

Diagnostics, 2022
Background: Dystrophic Epidermolysis bullosa (DEB) is a rare, severe subtype of epidermolysis bullosa (EB), characterized by blisters and miliary rashes of the skin.
Fozia Fozia, Rubina Nazli, May Mohammed Alrashed, Hazem K. Ghneim, Zia Ul Haq, Musarrat Jabeen, Sher Alam Khan, Ijaz Ahmad, Mohammed Bourhia, Mourad A. M. Aboul-Soud   +9 more
doaj   +1 more source

Mild recessive dystrophicepidermolysis bullosa associated with two compound heterozygous COL7A1 mutations

, 2011
Dystrophic epidermolysis bullosa is a group of inherited skin blistering disorders caused by mutations in the COL7A1 gene coding for type VII collagen.
von Bartenwerffer, Wibke, Kreuter, Alexander, Hoffmann, Michael, Bruckner-Tuderman, Leena, Hartmann, Karin, Has, Cristina, Arin, Meral J., Kremer, Kim, Kohlhase, Jürgen, Krieg, Thomas, Eming, Sabine A., Tantcheva-Poór, Iliana, Arshah, Tarek   +12 more
core   +1 more source