research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
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research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency
Biotin supplements can effectively treat hair loss and skin issues in certain enzyme deficiencies.
research An essential role for Rxrα in the development of Th2 responses
RXRα is crucial for proper immune response and links diet to immune function.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene
A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research A Rare Case of Biotinidase Deficiancy
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Men with Kennedy disease have a reduced risk of androgenetic alopecia
Men with Kennedy disease have less chance of hair loss.
research Black Hair Follicular Dysplasia in Black and White Saluki Dogs: Differentiation from Color Mutant Alopecia in the Doberman Pinscher by Microscopic Examination of Hairs
Black and white Saluki dogs have a unique hair loss condition different from Doberman pinschers.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Effect of Primary Biotin Deficiency on the Skin of Germ-Free and Conventional Mice Fed a Purified Biotin-Deficient Diet without Supplementation with Egg White.
Biotin deficiency causes severe hair loss and weight reduction in germ-free mice.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research PA30 Evaluation of markers of inflammation and oxidative stress in patients with premature canities
Premature canities is linked to low vitamin D and B12, family history, and higher MHR.
research Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice
External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
research A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
A mutation in the Sgkl gene causes defective hair growth in mice.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Case 6
The dog has Color Dilution Alopecia, causing hair loss and increased risk of skin infections.
research Mouse models with a disrupted PTHrP gene or a disrupted PTH gene (PTH−/− mice)
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique
PC-associated alopecia has unique microscopic features.
research MANIFESTATION OF ZINC DEFICIT IN KARACHI PAKISTAN; A CROSS SECTIONAL STUDY
Many in Karachi have zinc deficiency symptoms but lack awareness of zinc's importance.