A5066917620- Skin and Cellular Biology Research
- Plant Reproductive Biology
- Wnt/β-catenin signaling in development and cancer
- Dermatological and Skeletal Disorders
- Pituitary Gland Disorders and Treatments
- Platelet Disorders and Treatments
- Autoimmune Bullous Skin Diseases
- Genetic and rare skin diseases.
- Genetic and Kidney Cyst Diseases
- dental development and anomalies
- Kruppel-like factors research
- NF-κB Signaling Pathways
- Immunodeficiency and Autoimmune Disorders
- Hidradenitis Suppurativa and Treatments
- Hair Growth and Disorders
- Liver Diseases and Immunity
- Psoriasis: Treatment and Pathogenesis
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research
- Intestinal Malrotation and Obstruction Disorders
- Neurogenetic and Muscular Disorders Research
- Colorectal and Anal Carcinomas
- Asthma and respiratory diseases
- Plant Surface Properties and Treatments
- Hedgehog Signaling Pathway Studies
Ben-Gurion University of the Negev
2020-2025
Soroka Medical Center
2022-2025
University Medical Center
2024
Tel Aviv Sourasky Medical Center
2016-2021
Tel Aviv University
2016-2021
Rabin Medical Center
2011-2017
Hebrew University of Jerusalem
2012
Abstract Ehlers–Danlos syndromes (EDS) are a group of connective tissue disorders caused by mutations in collagen and collagen-interacting genes. We delineate novel form EDS with vascular features through clinical histopathological phenotyping genetic studies three-generation pedigree, displaying an apparently autosomal dominant phenotype joint hypermobility frequent dislocations, atrophic scarring, prolonged bleeding time age-related aortic dilatation rupture. Coagulation tests as well...
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...
Sex-specific predilection in neurological diseases caused by mutations autosomal genes is a phenomenon whose molecular basis poorly understood. We studied females of consanguineous Bedouin kindred presenting with severe global developmental delay and epilepsy.
Abstract The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups Zn 2+ transporters: the 14‐member ZIP/SLC39 family, facilitating influx into cytoplasm from extracellular space or intracellular organelles; 10‐member ZnT/SLC30 mobilizing in opposite direction. Genetic aberrations most transporters cause human syndromes. Notably, previous studies demonstrated osteopenia male‐specific cardiac death mice lacking...
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...
Uncombable hair syndrome (UHS) is a rare shaft anomaly that manifests during infancy and characterized by dry, frizzy, wiry cannot be combed flat. Only about 100 known cases have been reported so far.To elucidate the genetic spectrum of UHS.This cohort study includes 107 unrelated index patients with suspected diagnosis UHS family members who were recruited worldwide from January 2013 to December 2021. Participants all ages, races, ethnicities at referral centers or enrolled on their own...
Abstract Proteasome 26S, the eukaryotic proteasome, serves as machinery for cellular protein degradation. It is composed of 20S core particle and one or two 19S regulatory particles, a base lid. To date, several human diseases have been associated with mutations within 26S proteasome subunits; only them affects subunit. We now delineate an autosomal recessive syndrome failure to thrive, severe developmental delay intellectual disability, spastic tetraplegia central hypotonia, chorea, hearing...
POT1 (Protection of Telomeres 1) is a key component the six-membered shelterin complex that plays critical role in telomere protection and length regulation. Germline variants gene have been implicated predisposition to cancer, primarily melanoma chronic lymphocytic leukemia (CLL). We report identification p.(I78T), previously ranked with conflicting interpretations pathogenicity, as founder pathogenic variant among Ashkenazi Jews (AJs) describe its unique clinical landscape. A directed...
Psoriasis is a multifactorial chronic inflammatory disease. Monogenic psoriasis has been described recently, including dominantly inherited plaque and generalized pustular types, related to activating mutations in the CARD14 gene. We describe here family with CARD14-related psoriasis, exhibiting an extreme variability of clinical presentation (from mild plaque-type psoriasis) early disease onset. The affected members harboured c.349G>A [p.Gly117Ser] mutation CARD14, which not previously...
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....
Ciliopathies are a heterogeneous group of disorders, related to abnormal ciliary function. Severe biliary ciliopathy, caused by bi-allelic mutations in TTC26, has been recently described the context syndrome polydactyly and severe neonatal cholestasis, with brain, kidney heart involvement. Pituitary involvement not previously reported for patients this condition. stalk interruption (PSIS) is congenital anomaly pituitary gland, diagnosed characteristic MRI findings. We now describe four TTC26...
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%,...