A5009052583- Skin and Cellular Biology Research
- Dermatological and Skeletal Disorders
- Autoimmune Bullous Skin Diseases
- Wnt/β-catenin signaling in development and cancer
- Immunodeficiency and Autoimmune Disorders
- Plant Reproductive Biology
- Genomics and Rare Diseases
- Cervical Cancer and HPV Research
- Parvovirus B19 Infection Studies
- RNA regulation and disease
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Cell Adhesion Molecules Research
- Tumors and Oncological Cases
- Viral-associated cancers and disorders
- Cancer Diagnosis and Treatment
- Virus-based gene therapy research
- Lipid metabolism and biosynthesis
- Genomic variations and chromosomal abnormalities
- Cellular Mechanics and Interactions
- Dermatology and Skin Diseases
- Connective tissue disorders research
- Heterotopic Ossification and Related Conditions
- Cancer and Skin Lesions
- PI3K/AKT/mTOR signaling in cancer
Baylor College of Medicine
2024-2025
Children's Hospital of Philadelphia
2022-2025
Baylor Genetics
2025
Texas Children's Hospital
2024
Jefferson Institute
2017-2023
Thomas Jefferson University
2016-2023
Research Institute for Endocrine Sciences
2023
Sidney Kimmel Cancer Center
2023
California University of Pennsylvania
2023
Shahid Beheshti University of Medical Sciences
2023
Patients with epidermodysplasia verruciformis (EV) and biallelic null mutations of TMC6 (encoding EVER1) or TMC8 (EVER2) are selectively prone to disseminated skin lesions due keratinocyte-tropic human β-papillomaviruses (β-HPVs), which lack E5 E8. We describe EV patients homozygous for the CIB1 gene encoding calcium- integrin-binding protein-1 (CIB1). is strongly expressed in cultured keratinocytes controls but not those patients. forms a complex EVER1 EVER2, proteins EVER1- EVER2-deficient...
Recessive forms of congenital ichthyosis encompass a group rare inherited disorders keratinization leading to dry, scaly skin. So far, 13 genes have been implicated, but there is paucity data on genotype–phenotype correlation in some populations. We compiled an English cohort 146 individuals with recessive and assessed correlation. Deep phenotyping was undertaken by history‐taking clinical examination. DNA screened for mutations using next‐generation sequencing gene panel Sanger sequencing....
Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non-syndromic Mendelian disorders keratinization, is caused by mutations in as many 13 distinct genes. We examined cohort 125 consanguineous families with ARCI for underlying genetic mutations. The patients' DNA was analyzed gene-targeted next generation sequencing panel comprising 38 associated interpretations results genomic data were assisted genome-wide homozygosity mapping and transcriptome...
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities ectopic associated with differentially reduced circulating levels inorganic pyrophosphate (PPi), a potent endogenous inhibitor calcification. Variants in ENPP1, the gene mutated GACI, have not been classic PXE. Here we report clinical, laboratory, molecular evaluations ten GACI two PXE patients from five unrelated families registered Global International databases,...
Clinical next-generation sequencing is an effective approach for identifying pathogenic sequence variants that are medically actionable participants and families but not associated with the participant's primary diagnosis. These called secondary findings (SFs). According to literature, there no report of types frequencies SFs in a large pediatric cohort includes substantial African-American participants. We sought investigate (including American College Medical Genetics Genomics [ACMG]...
Biallelic mutations in the ITK gene cause a T-cell primary immunodeficiency with Epstein-Barr virus (EBV)-lymphoproliferative disorders. We describe novel association of homozygous mutation β-human papillomavirus (HPV)-positive epidermodysplasia verruciformis. Thus, loss function can result broad dysregulation responses to oncogenic viruses, including β-HPV and EBV.
Abstract Background Among the approximately 8000 Mendelian disorders, >1000 have cutaneous manifestations. In many of these conditions, underlying mutated genes been identified by DNA-based techniques which, however, can overlook certain types mutations, such as exonic-synonymous and deep-intronic sequence variants. Whole-transcriptome sequencing RNA (RNA-seq) identify mutations provide information about their consequences. Methods We analyzed whole transcriptome 40 families with...
To provide an applied framework for assessing the genetic contribution to assortative mating (AM) using height as a model trait and disclose trace of certain pieces evidence AM in form shared environmental effects from long-term cohabitation on spouses' anthropometric traits lipid serum levels. 2315 genotyped couples were extracted Tehran Cardiometabolic Genetic Study (TCGS). Pearson correlation analysis was used assess relationship between height. The GCTA-GREML SNP-based heritability...
Epidermolysis bullosa (EB) is a heterogeneous group of heritable blistering diseases. We developed next generation sequencing (NGS) panel covering 21 genes associated with skin fragility disorders, and it was applied to DNA from 91 probands the diagnosis EB. In one patient, novel homozygous mutations were disclosed in two different, unlinked EB-associated genes: EXPH5, chr11 g.108510085G > A; p.Arg1808Ter COL17A1, chr10 g.104077423delT; p.Thr68LeufsTer106. Consequences COL17A1 mutation...