research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice
The Foxn1 gene is essential for normal nail and hair development.
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660-690 / 1000+ resultsresearch 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 Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research Successful management of Netherton syndrome using IVIG and dupilumab: A case report
A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector
Gene therapy with a vitamin D receptor gene improved hair growth in rats with a type of rickets-related baldness.
research Zinc metabolism in lethal-milk mice
Lethal-milk mice produce zinc-deficient milk, causing health issues in pups unless supplemented with zinc.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Keratinocyte Cytokine Networks Associated with Human Melanocytic Nevus Development
Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
research IL-17 axis is a significant driver of skin inflammation in Card14 mutant pityriasis rubra pilaris model mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research The Carcinogenesis of the Human Scalp: An Immunometabolic-Centered View
Hair helps prevent scalp skin cancer by supporting immune protection.
research Carcinogenesis of the Human Scalp. An Immunometabolic Centered View
Hair helps prevent scalp skin cancer by supporting immune protection.
research Carcinogenesis of the Human Scalp. An Immunometabolic Centered View
Hair protects the scalp from skin cancer by aiding immune defense.
research Defining the impact of β-catenin/Tcf transactivation on epithelial stem cells
β-catenin is essential for stem cell activation and proliferation in hair follicles.
research Hedgehog signalling in skin development and cancer
The hedgehog signalling pathway is key in skin development and basal cell carcinoma, offering insights for prevention and treatment.
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.
research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.