A5049154173- Skin and Cellular Biology Research
- Dermatological and Skeletal Disorders
- Wnt/β-catenin signaling in development and cancer
- Genetic and rare skin diseases.
- Plant Reproductive Biology
- Bacterial Genetics and Biotechnology
- CRISPR and Genetic Engineering
- dental development and anomalies
- DNA and Nucleic Acid Chemistry
- RNA regulation and disease
- Hedgehog Signaling Pathway Studies
- Connective tissue disorders research
- Hidradenitis Suppurativa and Treatments
- NF-κB Signaling Pathways
- Dermatology and Skin Diseases
- Cellular Mechanics and Interactions
- Microbial Community Ecology and Physiology
- RNA and protein synthesis mechanisms
- Hair Growth and Disorders
- Proteoglycans and glycosaminoglycans research
- Hippo pathway signaling and YAP/TAZ
- Genetic factors in colorectal cancer
- Protist diversity and phylogeny
- Plant tissue culture and regeneration
- Hereditary Neurological Disorders
Tel Aviv Sourasky Medical Center
2016-2023
Tel Aviv University
2008-2015
Louisiana Tech University
2013
Ben-Gurion University of the Negev
2009
Dowling-Degos disease (DDD), featuring reticulate pigmentation, and familial hidradenitis suppurativa (HS) share many clinical features including autosomal dominant inheritance, flexural location follicular defects. The coexistence of the two disorders was recently found to result from mutations in PSENEN, encoding γ-secretase subunit protein presenilin enhancer.To investigate PSENEN a series four unrelated patients who presented with combined DDD HS.Mutation haplotype analysis by polymerase...
Despite recent advances in our understanding of the pathogenesis ectodermal dysplasias (EDs), molecular basis many these disorders remains unknown. In present study, we aimed at elucidating genetic a new form ED featuring facial dysmorphism, scalp hypotrichosis and hypodontia. Using whole exome sequencing, identified 2 frameshift missense mutations TSPEAR segregating with disease phenotype 3 families. encodes thrombospondin-type laminin G domain EAR repeats (TSPEAR) protein, whose function...
SVEP1 is a recently identified multidomain cell adhesion protein, homologous to the mouse polydom which has been shown mediate cell-cell in an integrin-dependent manner osteogenic cells. In this study, we characterized function epidermis. was found by qRT-PCR be ubiquitously expressed human tissues, including skin. Confocal microscopy revealed that normally mostly cytoplasm of basal and suprabasal epidermal Downregulation expression primary keratinocytes resulted decreased major...
Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling varying degrees of erythema. Clinical manifestations range from lamellar (LI), ichthyosiform erythroderma (CIE) through the most severe form ARCI, Harlequin (HI). We used homozygosity mapping, whole-exome direct sequencing to delineate relative distribution pathogenic variants as well identify genotype-phenotype correlations in cohort 62 Middle Eastern...
Recombinase-mediated cassette exchange, or RMCE, is a clean approach of gene delivery into desired chromosomal location, as it able to insert only the required sequences, leaving behind unwanted ones. RMCE can be mediated by single site-specific DNA recombinase two recombinases with different target specificities (dual RMCE). Recently, using Flp–Cre pair, dual proved efficient, provided relative ratio enzymes during reaction optimal. In present report, we analyzed how efficiency Flp–Int...
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because the variable clinical features severity disease, histopathology often required to correctly direct molecular analysis. EI characterized hyperkeratosis vacuolar degeneration upper epidermis, also known as epidermolytic hyperkeratosis, hence name disease. In current report, authors describe members 2 families presenting with consistent EI....
Epidermolytic ichthyosis (EI) is a rare skin disorder caused by mutations in the genes KRT1 and KRT10, usually inherited an autosomal dominant fashion. Only five recessive causing EI have been described, all of which are located central region KRT10 gene. In current study, we aimed to identify genetic defect underlying 12-year-old patient. Direct sequencing patient's genomic DNA revealed novel homozygous nonsense mutation residing within proximal part first exon. The was found co-segregate...
Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on level separation within dermal-epidermal junction, EB is sub-classified into four major types including simplex (EBS), junctional (JEB), dystrophic (DEB), Kindler (KEB) with 16 EB-associated reported date.We ascertained a cohort 151 patients various Middle Eastern ethnic backgrounds.The was comprised EBS (64%, 97/151), DEB (21%,...
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Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in pathogenesis types EBS, but a substantial portion cases cannot be attributed to mutations known genes. Recently, recessive gene EXPH5 (encoding exophilin‐5, also as Slac2‐b) were identified patients affected with mild EBS. We used immunohistochemistry, Sanger sequencing and PCR–restriction fragment length polymorphism analysis identify cause congenital skin fragility 3‐year‐old...
A comparison between the efficiency of recombinase-mediated cassette exchange (RMCE) reactions catalyzed in <i>Escherichia coli</i> by site-specific recombinases Flp yeast and Int coliphage HK022 has revealed that an Flp-catalyzed RMCE reaction is more efficient than Int-HK022 reaction. In contrast, with 1 pair <i>frt</i> sites <i>att</i> presence both very inefficient. However, same each recombinase individually supplied a sequential order efficient,...
The integrase (Int) of the lambda-like coliphage HK022 catalyzes site-specific integration and excision phage DNA into from chromosome its host, Escherichia coli. Int recognizes two different pairs recombining sites attP x attB attL attR for excision, respectively. This system was adapted to cyanobacterium Anabaena sp. strain PCC 7120 as a potential tool gene manipulations in cyanobacterium. Two plasmids were consecutively cointroduced by conjugation cells, one plasmid that expresses...