Results 61 to 70 of about 4,117 (196)

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

Journal of Dermatological Science, 2012
FONDECYT
Rodríguez, Fernando A, Gana, María José, Yubero, María Joao, Zillmann, Gisela, Krämer, Susanne M, Catalán, Javiera, Rubio-Astudillo, Julia, González, Sergio, Liu, Lu, Ozoemena, Linda, Mellerio, Jemima E, Mellerio, Jemima M, McGrath, John A, Palisson, Francis, Conget, Paulette   +14 more
openaire   +5 more sources

BRD9 inhibition as potential treatment option for testicular germ cell tumors

Andrology, EarlyView.
Abstract Background Testicular germ cell tumors (TGCT) are the predominant tumor in younger males. Usually, 5‐year survival rates are quite high, but 15–20% of patients with metastatic non‐seminomas are resistant to standard cisplatin‐based therapy.
Aylin Hansen, Christine Sanders, Florian Fronhoffs, Kai Funke, Glen Kristiansen, Hubert Schorle   +5 more
wiley   +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

Brain metastasis‐associated fibroblasts shape the tumour microenvironment to enhance cancer cell invasion

Brain Pathology, EarlyView.
Brain metastasis‐associated fibroblasts are active stromal components of the metastatic niche characterised by extracellular matrix remodelling and production of pro‐migratory mediators. They promote monocyte and cancer cell migration and enhance cancer cell invasion while having no growth‐promoting effect on cancer cells.
Barbora Výmolová, Lucie Pfeiferová, Tadeáš Karel Smetana, Petr Výmola, Nikola Ternerová, Michal Zubaľ, Michal Kolář, Jana Šáchová, Soňa Gyönyörová, Eva Balážiová, Magdalena Houdová Megová, Jakub Červenka, Helena Kupcová Skalníková, Michal Španko, Karel Smetana Jr., Lukáš Lacina, David Netuka, Robert Tomáš, Petr Bušek, Aleksi Šedo   +19 more
wiley   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 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

Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features [PDF]

, 1995
Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical ...
Kint, André, De Bie, Sylvia, Nuytinck, Lieve, Beele, Hilde, De Paepe, Anne, Naeyaert, Jean-Marie, Naeyaert, Jean Marie   +6 more
core   +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

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice
Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
doaj   +1 more source