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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180-210 / 1000+ resultsresearch A Receptor-Like Kinase Mediates Ammonium Homeostasis and Is Important for the Polar Growth of Root Hairs inArabidopsis
The CAP1 gene helps control ammonium levels and is necessary for the proper growth of root hairs in Arabidopsis.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Cytokine Targeted Therapeutics for Alopecia Areata: Lessons from Atopic Dermatitis and Other Inflammatory Skin Diseases
Targeted cytokine treatments may help with alopecia areata, but more research is needed.
research Genetics of Wool and Cashmere Fibre: Progress, Challenges, and Future Research
More research is needed to improve wool and cashmere quality through genetics.
research Overlapping features of atopic dermatitis and alopecia areata: from pathogenesis to treatment
Atopic dermatitis and alopecia areata share immune and genetic factors, and targeted therapies may help both.
research Modulating immune responses in alopecia: therapeutic insights and potential targets of antisense oligonucleotides
Targeting SIRT1 with antisense oligonucleotides could be a promising treatment for hair loss.
research Cyclosporine-induced alopecia:a case report, FDA adverse event reporting system analysis and literature assessment
Cyclosporine may cause hair loss, so patients need monitoring.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research The association between Interleukin (IL)-4 gene intron 3 VNTR polymorphism and alopecia areata (AA) in Turkish population
IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10
A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
Scientists discovered two versions of a new human hair keratin gene.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells
A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
research Pmg-1 and Pmg-2 constitute a novel family of KAP genes differentially expressed during skin and mammary gland development
Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
research Evolution of Trichocyte Keratins
Hair keratins evolved from ancient proteins, diversifying through gene changes, crucial for forming claws and later hair in mammals.
research Hoxc13 Expression Pattern in Cashmere Goat Skin During Hair Follicle Development
Hoxc13 gene expression and skin thickness change similarly during cashmere goat hair follicle development.
research Variation in the ovine trichohyalin gene and its association with wool curvature
Variation in the TCHH gene affects wool curliness in sheep.
research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells
A truncated protein linked to breast cancer may change cell adhesion.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Structure of human type II 5 alpha-reductase gene.
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
research Structure of human type II 5 alpha-reductase gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Hair follicle differentiation: expression, structure and evolutionary conservation of the hair type II keratin intermediate filament gene family
Type II keratin genes are crucial for hair follicle differentiation and have a conserved structure and expression pattern.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.