Desmosomes as signaling hubs in the regulation of cell behavior

L Müller, M Hatzfeld, R Keil - Frontiers in cell and developmental …, 2021 - frontiersin.org
Desmosomes are intercellular junctions, which preserve tissue integrity during homeostatic
and stress conditions. These functions rely on their unique structural properties, which …

Mechanisms causing acantholysis in pemphigus-lessons from human skin

DT Egu, T Schmitt, J Waschke - Frontiers in Immunology, 2022 - frontiersin.org
Pemphigus vulgaris (PV) is an autoimmune bullous skin disease caused primarily by
autoantibodies (PV-IgG) against the desmosomal adhesion proteins desmoglein (Dsg) 1 …

Desmosomes in human disease

NA Najor - Annual Review of Pathology: Mechanisms of Disease, 2018 - annualreviews.org
Tissue integrity is crucial for maintaining the homeostasis of living organisms. Abnormalities
that affect sites of cell-cell contact can cause a variety of debilitating disorders. The …

Genetic hair disorders: a review

A Ahmed, H Almohanna, J Griggs, A Tosti - Dermatology and therapy, 2019 - Springer
Hair loss in early childhood represents a broad differential diagnosis which can be a
diagnostic and therapeutic challenge for a physician. It is important to consider the diagnosis …

Prognosis and management of congenital hair shaft disorders with fragility—Part I

G Singh, M Miteva - Pediatric dermatology, 2016 - Wiley Online Library
Hair shaft disorders are characterized by congenital or acquired abnormalities of the hair
shaft. The objective was to review the literature regarding the prognosis and treatment …

The significance of scalp involvement in pemphigus: a literature review

M Sar-Pomian, L Rudnicka… - BioMed Research …, 2018 - Wiley Online Library
Scalp is a unique location for pemphigus because of the abundance of desmogleins
localized in hair follicles. Scalp involvement is observed in up to 60% of patients in the …

A novel heterozygous intragenic sequence variant in DLX6 probably underlies first case of autosomal dominant split-hand/foot malformation type 1

A Ullah, A Hammid, M Umair, W Ahmad - Molecular Syndromology, 2017 - karger.com
Split-hand and foot malformation (SHFM; MIM 183600) is a rare human genetic limb
malformation. It is characterized by missing digital rays in the hands and feet. SHFMs vary in …

[HTML][HTML] Screening, diagnosis and genetic study of breast cancer patients in Pakistan

AI Majeed, A Ullah, M Jadoon, W Ahmad… - Pakistan Journal of …, 2020 - ncbi.nlm.nih.gov
Objective: To determine the role of variants in BRCA1 gene in breast cancer development,
women of Pakistani origin, diagnosed with breast cancer, were screened for variants in the …

Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation

A Ullah, A Gul, M Umair, Irfanullah, F Ahmad… - … and Molecular Biology, 2018 - SciELO Brasil
Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic
disorder. It is a clinically and genetically heterogeneous group of limb malformations …

Hair disorders

EA Olsen, M Iorizzo - Harper's textbook of pediatric dermatology, 2019 - Wiley Online Library
This chapter is a comprehensive review of potential causes of alopecia or hair overgrowth
that physicians may see in the paediatric population. It begins with an overview of the …