research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
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research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Adrenal Cortex Tumors and Hyperplasias
Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
research A symphony of signals: the intricate role of lncRNAs in dermatological disorders
lncRNAs are important for understanding and treating skin diseases.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters
MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research NAC1 directs CEP1-CEP3 peptidase expression and modulates root hair growth in Arabidopsis
NAC1 controls certain enzymes that reduce root hair growth in Arabidopsis.
research Convergent Decay of Skin-specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
research A smart deoxyribozyme-based fluorescent sensor for in vitro detection of androgen receptor mRNA
Scientists made a sensor that can detect a specific type of RNA related to androgen receptors quickly and accurately.
research Dicer- and BSC-dependent miRNAs during murine anagen development
Dicer is crucial for hair growth in mice.
research Hidradenitis Suppurativa/Acne Inversa/Dissecting Terminal Hair Folliculitis
Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Analysis of Vitamin D Receptor (VDR) Gene Polymorphisms in Alopecia Areata
Vitamin D receptor gene changes don't affect alopecia areata risk.
research Understanding Cancer Cells of Origin in Cutaneous Tumors
The document concludes that identifying the specific cells where skin cancers begin is important for creating better prevention, detection, and treatment methods.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research The Role of Histone Demethylases in Disease
Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
research Vitamin D, Lipid Metabolism and Prostate Cancer
Vitamin D may help regulate cholesterol and influence prostate cancer development.
research Androgenetische Alopezie beim Mann . Male androgenetic alopecia
Male androgenetic alopecia involves hair follicle miniaturization due to DHT, with potential treatments using inhibitors and blockers.
research SPT6 maintains epidermal homeostasis by inhibiting an NF-κB-positive feedback loop to prevent excessive inflammation
SPT6 prevents excessive skin inflammation by blocking a feedback loop.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Integrated multiomics analysis reveals the molecular features and crucial regulators of hair follicles in yak (Bos grunniens)
Yak hair follicles adapt to cold through specific gene regulation, enhancing cell growth.
research Hair follicle gene expression profiling in the SubPopulations and InteRmediate Outcome Measures in COPD Study (SPIROMICS)
Hair follicles can be used to study gene expression and understand conditions like COPD.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Immunological control of skin development: from homeostasis to developmental pathologies
Immune cells are crucial for normal skin development and their dysfunction can cause skin disorders.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.