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 …
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 …
characterized by variable expression and clinical and genetic heterogeneity, rendering their …
Losartan treatment improves recessive dystrophic epidermolysis bullosa: A case series
Recessive dystrophic epidermolysis bullosa (RDEB) manifests with blistering and erosions
of the skin and mucous membranes due to mutations in COL7A1. The repetitive wound …
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
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 …
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 …
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 …
generation sequencing (NGS) technologies (ie, whole-genome sequencing, whole-exome …
Recalcitrant cutaneous warts in a family with inherited ICOS deficiency
Recalcitrant warts, caused by human papillomaviruses (HPVs), can be a cutaneous
manifestation of inborn error of immunity. This study investigated the clinical manifestations …
manifestation of inborn error of immunity. This study investigated the clinical manifestations …
Impact of genome build on RNA-seq interpretation and diagnostics
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 …
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 …
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
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 …
We report an all-in-one whole-transcriptome sequencing–based method by RNA-Seq on a …