Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review

S Biglari, AS Moghaddam, MA Tabatabaiefar… - Genetics in …, 2024 - Elsevier
Purpose Persistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital,
and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and …

Clinical and molecular diagnosis of genodermatoses: Review and perspectives

D Salik, B Richert, G Smits - Journal of the European Academy …, 2023 - Wiley Online Library
Genodermatoses are a complex and heterogeneous group of genetic skin disorders
characterized by variable expression and clinical and genetic heterogeneity, rendering their …

Losartan treatment improves recessive dystrophic epidermolysis bullosa: A case series

MR Pourani, H Vahidnezhad, P Mansouri… - Dermatologic …, 2022 - Wiley Online Library
Recessive dystrophic epidermolysis bullosa (RDEB) manifests with blistering and erosions
of the skin and mucous membranes due to mutations in COL7A1. The repetitive wound …

[HTML][HTML] Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections

AH Saeidian, L Youssefian, M Naji, H Mahmoudi… - JCI insight, 2023 - ncbi.nlm.nih.gov
HPVs are DNA viruses include approximately 450 types that are classified into 5 genera (α-,
β-, γ-, μ-, and ν-HPV). The γ-and β-HPVs are present in low copy numbers in healthy …

Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa

N Pironon, E Bourrat, C Prost, M Chen… - Proceedings of the …, 2024 - pnas.org
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genetic
disease characterized by recurrent blistering and erosions of the skin and mucous …

Inherited ichthyosis as a paradigm of rare skin disorders: genomic medicine, pathogenesis, and management

JS Park, AH Saeidian, L Youssefian… - Journal of the American …, 2023 - Elsevier
Great advances have been made in the field of heritable skin disorders using next-
generation sequencing (NGS) technologies (ie, whole-genome sequencing, whole-exome …

Recalcitrant cutaneous warts in a family with inherited ICOS deficiency

L Youssefian, AH Saeidian, AR Tavasoli… - Journal of Investigative …, 2022 - Elsevier
Recalcitrant warts, caused by human papillomaviruses (HPVs), can be a cutaneous
manifestation of inborn error of immunity. This study investigated the clinical manifestations …

Impact of genome build on RNA-seq interpretation and diagnostics

RA Ungar, PC Goddard, TD Jensen, F Degalez… - The American Journal of …, 2024 - cell.com
Transcriptomics is a powerful tool for unraveling the molecular effects of genetic variants and
disease diagnosis. Prior studies have demonstrated that choice of genome build impacts …

Mutation update: The spectra of PLEC sequence variants and related plectinopathies

H Vahidnezhad, L Youssefian, N Harvey… - Human …, 2022 - Wiley Online Library
Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in
many cell types. Plectin consists of three main domains that determine its functionality: the N …

[HTML][HTML] Whole-transcriptome sequencing–based concomitant detection of viral and human genetic determinants of cutaneous lesions

AH Saeidian, L Youssefian, CY Huang, F Palizban… - JCI insight, 2022 - ncbi.nlm.nih.gov
Severe viral infections of the skin can occur in patients with inborn errors of immunity (IEI).
We report an all-in-one whole-transcriptome sequencing–based method by RNA-Seq on a …