A5084134949- Skin and Cellular Biology Research
- Autoimmune Bullous Skin Diseases
- Cell Adhesion Molecules Research
- Dermatological and Skeletal Disorders
- RNA regulation and disease
- Vitamin D Research Studies
- melanin and skin pigmentation
- Hair Growth and Disorders
- Wnt/β-catenin signaling in development and cancer
- Cellular Mechanics and Interactions
- Plant Reproductive Biology
- Polysaccharides and Plant Cell Walls
- Vascular Malformations and Hemangiomas
- Vascular Malformations Diagnosis and Treatment
- Silk-based biomaterials and applications
- Vitamin C and Antioxidants Research
- RNA Research and Splicing
- Nail Diseases and Treatments
- Thermoregulation and physiological responses
- Medical and Biological Ozone Research
- Genomics, phytochemicals, and oxidative stress
- Genomics and Phylogenetic Studies
- Cellular transport and secretion
- Cutaneous Melanoma Detection and Management
- Cancer Genomics and Diagnostics
Institute of Genomics and Integrative Biology
2018-2025
Academy of Scientific and Innovative Research
2022-2025
All India Institute of Medical Sciences
2014-2023
Stanford University
2020-2022
University Medical Center Groningen
2017-2020
University of Groningen
2018-2020
Austrian Society of Dermatology and Venereology
2017
Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is a lifelong genodermatosis associated with blistering, wounding, and scarring caused by mutations in COL7A1 , the gene encoding anchoring fibril component, collagen VII (C7). Here, we evaluated beremagene geperpavec (B-VEC), an engineered, non-replicating containing herpes simplex virus type 1 (HSV-1) vector, to treat RDEB skin. B-VEC restored C7 expression keratinocytes, fibroblasts, mice human xenografts. Subsequently,...
Abstract Background Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility the skin mucosae, resulting in blisters erosions. Several epidemiological studies other populations have been carried out, reporting varying sometimes inconclusive figures, highlighting need for standardized analyses well‐characterized cohorts. Objectives To evaluate data on EB Netherlands, extracted from molecularly cohort Dutch Registry. Methods In this...
Infantile hemangiomas (IH) are common vascular tumours. IH have a characteristic natural course. They proliferate rapidly during the early infantile period followed by of gradual regression over several years. Most uncomplicated undergo spontaneous involution, with small proportion cases requiring intervention. These children in life-threatening locations, local complications like haemorrhage, ulceration and necrosis functional or cosmetic disfigurements. Systemic corticosteroids been first...
Genome diagnostics is considered gold standard for epidermolysis bullosa (EB), a phenotypically and genetically heterogeneous group of rare disorders characterized by blistering wounding mucocutaneous tissues. EB caused pathogenic variants in genes encoding proteins the dermo-epidermal junction. Accurate genetic diagnosis crucial prognostication, counselling precision-medicine. started 1991 with introduction Sanger sequencing (SS), analysing one gene at time. In 2013, SS was superseded...
Severe vitamin D deficiency and rickets are highly prevalent among children with congenital ichthyosis. We report an incidental observation of a dramatic excellent clinical response regard to skin scaling stiffness in ichthyosis after short-term high-dose supplementation that has not been previously described. Seven (5 autosomal recessive ichthyosis; 2 epidermolytic ichthyosis) severe (and/or rickets) were given 60 000 IU oral cholecalciferol daily for 10 days under supervision. All...
Mitochondria regulate several physiological functions through mitochondrial Ca 2+ dynamics. However, role of signaling in melanosome biology remains unknown. Here, we show that pigmentation requires uptake. In vitro gain and loss function studies demonstrate uniporter (MCU) is crucial for melanogenesis while MCU rheostat, MCUb negatively control melanogenesis. Zebrafish, +/- -/- mice models complex drives vivo. Mechanistically, silencing activates transcription factor NFAT2 to induce...
Background Follicular Dowling-Degos disease (DDD) is a rare clinically and histologically distinct genodermatosis. However, its genetic basis has not been well-studied. Objective To describe the clinical, histological, mutational spectrum of follicular DDD in 10 patients from five unrelated Indian families. Methods Clinical histological features were recorded. Whole exome sequencing was done on venous blood probands their family members, results validated by Sanger sequencing. Results All...
Accurately diagnosing the subtype of epidermolysis bullosa (EB) is critical for management and genetic counselling. Modern laboratory techniques are largely inaccessible in developing countries, where diagnosis remains clinical often inaccurate. To develop a simple diagnostic tool to aid subtyping EB. We developed matrix indicating presence or absence set distinctive features (as rows) nine most prevalent EB subtypes columns). test an individual patient, these was compared with findings...
Recent advances in the field of genomics have seen successful implementation whole exome sequencing as a rapid and efficient diagnostic strategy several genodermatoses. The aim this study was to explore potential molecular studies dystrophic epidermolysis bullosa (DEB) India. Whole performed using genomic DNA from each case bullosa, followed by massively parallel sequencing. Resulting reads were mapped human reference genome hg19. Sanger subsequently confirmed potentially pathogenic...
Patients with congenital ichthyosis, especially those darker skin types, are at increased risk of developing vitamin D deficiency and rickets. The relationships between 25-hydroxyvitamin [25(OH)D], parathyroid hormone (PTH) bone health have not been studied previously, in ichthyosis.To determine the threshold levels 25(OH)D PTH for impaired children ichthyosis.In this cross-sectional study, 119 ichthyosis 168 controls were recruited. Serum 25(OH)D, PTH, calcium, phosphate alkaline...
Abstract Introduction Dystrophic epidermolysis bullosa is a debilitating skin condition, without curative treatment. Previous research has focused on the recessive variant, which known to cause severe disease. Limited work focusing clinical manifestations and outcomes of dominant dystrophic found (DDEB). Methods Analysis an online survey 42 DDEB patients. Results Self‐reported severity disease did not correlate with size wound or number dressing changes, but pain reported in last 12 months...
Vitamin D deficiency is a widely recognized public health problem. Efficacy of recently developed micellized form vitamin D3 has not been studied. Hence, we undertook this study to compare its efficacy with the conventionally used fat-soluble D3.In open-labeled nonrandomized pilot study, recruited 180 healthy children, aged 13-14 years in two groups and supplemented Group A (60 children) 60,000 IU D3/month milk B (120 IU/month water miscible under supervision for 6 months. Serum 25(OD)D,...
Immunofluorescence (IFM) antigen mapping is the most commonly used technique to diagnose and differentiate epidermolysis bullosa (EB). In India, IFM limited few research laboratories not readily available, making diagnosis largely clinical often inaccurate. Ob jective of Study: To examine diagnostic usefulness immunohistochemistry (IHC) as compared in resource-limited settings.Forty-four consecutive EB patients were included this study. IHC performed on 7-µm frozen tissue sections using...
Epidermolysis bullosa (EB) has profound effect on the subjective distress, family burden, and quality of life (QOL) primary caregivers (PCG). Knowledgeable PCG can efficiently manage children with these skin diseases also improve their QOL.To assess QOL, to develop short-term effectiveness a psycho-dermatological education package (PDEP) for EB.In this interventional study, 30 EB were assessed QOL. PDEP, structured educational tool explaining disease its care stress management, was developed...