Results 81 to 90 of about 2,814 (184)

A Deletion Mutation in COL17A1 in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa Represents Propagation of an Ancestral Allele [PDF]

, 1998
Patients with generalized atrophic benign epidermolysis bullosa, a usually nonlethal form of junctional epidermolysis bullosa, have generalized blistering, nail dystrophy, patchy alopecia, and dental abnormalities.
Compton, John G., Darling, Thomas N., Koh, Brian B., Yancey, Kim B., Bale, Sherri J., Bauer, Johann W., Hintner, Helmut   +6 more
core   +1 more source

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

Orphanet Journal of Rare Diseases, 2022
Background Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases characterized by skin fragility. Primary data on Taiwanese population remain scarce.
Wei-Ting Tu, Ping-Chen Hou, Peng-Chieh Chen, Wan-Rung Chen, Hsin-Yu Huang, Jing-Yu Wang, Yi-Ting Huang, Yi-Huei Wu, Chun-Lin Su, Yen-An Tang, Hiroaki Iwata, Ken Natsuga, Sheau-Chiou Chao, H. Sunny Sun, Ming-Jer Tang, Julia Yu-Yun Lee, John A. McGrath, Chao-Kai Hsu   +17 more
doaj   +1 more source

Mutations in Collagen, Type XVII, Alpha 1 (COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

, 2015
Corneal dystrophies are a clinically and genetically heterogeneous group of inherited disorders that bilaterally affect corneal transparency. They are defined according to the corneal layer affected and by their genetic cause.
Hardcastle, Alison J.,, Sandgren, Ola,, Koskela, Timo,, Backman, Ludvig J.,, Tuft, Stephen J.,, Golovleva, Irina,, Byström, Berit,, Danielson, Patrik,, Davidson, Alice E.,, Kellgren, Therese,, Jonsson, Frida,, Ryden, Patrik,   +11 more
core   +1 more source

Genética Molecular das Epidermólises Bolhosas Molecular Genetics of Epidermolysis Bullosa

Anais Brasileiros de Dermatologia, 2002
O estudo das alterações moleculares das epidermólises bolhosas tem contribuído para que se compreenda melhor essas enfermidades. Na epidermólise bolhosa simples a maioria dos casos está associada com alteração nas citoqueratinas basais 5 (gen KRT5) e 14 (
Hiram Larangeira de Almeida Jr
doaj   +1 more source

Dynamic Remodeling of Oocyte‐Granulosa Cell Communication During Bovine Folliculogenesis Revealed by Transcriptomic Meta‐Analyses

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
Bidirectional communication between oocytes and granulosa cells undergoes progressive remodeling during bovine folliculogenesis. Integrative transcriptomic analysis identified stage‐specific ligand‐receptor signaling networks coordinating structural, metabolic, and developmental processes.
Noemi Monferini, Ludovica Donadini, Pritha Dey, Federica Franciosi, Valentina Lodde, Maria Belen Rabaglino, Alberto Maria Luciano   +6 more
wiley   +1 more source

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine

Frontiers in Medicine, 2019
Junctional epidermolysis bullosa (JEB) is a hereditary blistering disease caused by reduced dermal-epidermal adhesion due to deficiencies of one of the proteins, laminin-332, type XVII collagen, integrin α6β4 or integrin α3. Significant progress has been
Irina Condrat, Irina Condrat, Yinghong He, Rodica Cosgarea, Cristina Has   +4 more
doaj   +1 more source

TRPA1 Regulates Fibrosis‐Associated Transcriptional Pathways in Human Lung Epithelial Cells

Basic &Clinical Pharmacology &Toxicology, Volume 139, Issue 3, September 2026.
ABSTRACT Transient receptor potential ankyrin 1 (TRPA1) is a cation channel originally identified in lung fibroblasts and extensively studied in sensory neurons, where it is associated with pain and neurogenic inflammation. We and others have recently shown that TRPA1 is also expressed in lung epithelial cells and that its expression is regulated by ...
Leevi Halonen, Samu Luostarinen, Ida Valjus, Julia Vistbacka, Antti Pemmari, Eeva Moilanen   +5 more
wiley   +1 more source

RECÉM-NASCIDO COM EPIDERMÓLISE BOLHOSA JUNCIONAL NÃO-HERLITZ - A IMPORTÂNCIA DO DIAGNÓSTICO PRÉ- NATAL

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2015
A epidermólise bolhosa juncional é uma genodermatose caracterizada por fragilidade cutânea e formação de erosões e bolhas a nível da junção dermo-epidérmica, após trauma minor.
Leonor Lopes, Paulo Leal Filipe, Ana Berta Sousa, Maria João Lages, Fernanda Dinis, Carolina Gouveia   +5 more
doaj   +1 more source

Neutrophil Secretory Proteins Inhibit Calcium Oxalate Crystallisation and Crystal Growth, but Promote Crystal Aggregation

Immunology, Volume 179, Issue 1, Page 101-117, September 2026.
Calcium oxalate monohydrate (COM) crystals cause changes in the secretion of 29 proteins from neutrophil‐like cells, including those involved in neutrophil immune activation and intracellular metabolic adaptation. The neutrophil secreted proteins (secretome) also inhibit calcium oxalate crystallisation and crystal growth, but promote crystal ...
Chanettee Lertprapai, Paleerath Peerapen, Visith Thongboonkerd   +2 more
wiley   +1 more source

Motility of Col17a1^−/− keratinocytes is enhanced via active Rac1.

, 2014
A, Keratinocytes derived from wild type (Ctrl) and Col17a1−/− mice were grown on glass-bottom culture dishes, and cell migration was recorded by time-lapse imaging. The distance migrated is indicated on the x-axis.
Claus-Werner Franzke (185138), Kaisa Tasanen (520735), Tiina Hurskainen (520731), Oliver Schilling (520734), Stefanie Löffek (520730), Florian Christoph Sigloch (520733), Joanna Jackow (520732), Leena Bruckner-Tuderman (185147)   +7 more
core   +1 more source