research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
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research 44096 Efficacy in Subgroups related to Disease Characteristics in Patients with Alopecia Areata from BRAVE-AA1 and BRAVE-AA2
Baricitinib significantly improves hair regrowth in severe alopecia areata.
research A volar skin excisional wound model for in situ evaluation of multiple-appendage regeneration and innervation
The study concluded that the new wound model can be used to evaluate skin regeneration and nerve growth.
research Successful management of severe alopecia areata and vitiligo using topical delgocitinib and a 308-nm excimer laser
Combining topical delgocitinib with a 308-nm excimer laser can effectively treat severe alopecia areata and vitiligo.
research LB1056 Phase 1b: Translational evaluation of VYN201, a pan-BD BET inhibitor, for the treatment of non-segmental vitiligo
VYN201 shows promise as a safe and effective treatment for non-segmental vitiligo.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Effect of Compound Diandao Pulvis Drug Facial Mask on Acne Model of Rabbit's Ears
CDPDFM can improve acne symptoms in rabbit ears.
research Clinical Observation of Yifa Compound Treating 40 Cases of Female Pattern Hair Loss and Its Effect on Sera Dihydrotestosterone and Dehydroepiandrosterone
Yifa compound effectively treats female pattern hair loss and lowers DHT and DHEA levels.
research The Functional Diversity of Epidermal Keratins Revealed by the Partial Rescue of the Keratin 14 Null Phenotype by Keratin 16
K16 can partially replace K14 but causes hair loss and skin issues.
research Xiaozhi Yufa decoction ameliorates androgenetic alopecia through inhibition of MAPK signaling and regulation of lipid metabolism
Xiaozhi Yufa decoction may help treat hair loss by improving hair growth and reducing inflammation.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research The TIP GROWTH DEFECTIVE1 S-Acyl Transferase Regulates Plant Cell Growth in Arabidopsis
The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
research MicroRNA-214 controls skin and hair follicle development by modulating the activity of the Wnt pathway
MicroRNA-214 is important for skin and hair growth because it affects the Wnt pathway.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research P718 Observational real-world evidence on the efficacy and safety of Janus Kinase inhibitors (JAKi) in the treatment of moderate to severe Active Ulcerative Colitis (UC)
Janus Kinase inhibitors are effective and have an acceptable safety profile for treating moderate to severe Ulcerative Colitis.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Overview of the Role of 308 Monochromatic Excimer Phototherapy for the Treatment of Alopecia Areata
308 excimer phototherapy is a safe and effective way to treat hair loss from Alopecia Areata.
research An injectable photocuring silk fibroin-based hydrogel for constructing an antioxidant microenvironment for skin repair
The hydrogel speeds up wound healing and improves skin repair better than commercial options.
research Characterizing enteric neurons in Dopamine Transporter (DAT)-Cre reporter mice reveals dopaminergic subtypes with dual-transmitter content
Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
research Lessons From Epcot and Orlando 2014
The document concluded with a call for article submissions for the 2014 Writing Awards.
research Multi-functional nanozyme-integrated astragalus polysaccharide hydrogel for targeted phased therapy in diabetic wound healing
The hydrogel dressing speeds up and improves diabetic wound healing.
research Two-Stage Machine Learning-Based GWAS for Wool Traits in Central Anatolian Merino Sheep
Machine learning can effectively identify genes to improve wool quality in sheep.
research Dodatek A: Model matematyczny AL/RC/ASE. Functional Androgen Axis (FOA) - wersja operacyjna v1.2
The model improves understanding of androgen interactions by focusing on signal intensity and system capacity.
research Dodatek A: Model matematyczny AL/RC/ASE. Functional Androgen Axis (FOA) - wersja operacyjna v1.2
The model improves understanding of androgen interactions by focusing on signal intensity and system capacity.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs
Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.