research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
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630-660 / 1000+ resultsresearch The Vitamin D Receptor Is a Wnt Effector That Controls Hair Follicle Differentiation and Specifies Tumor Type in Adult Epidermis
Vitamin D receptor helps control hair growth and could be used to treat certain skin tumors.
research Root Hair Defective Six-Like 4 (RSL4) Promotes Root Hair Elongation by Transcriptionally Regulating the Expression of Genes Required for Cell Growth
The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment - Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Expression of Signaling Components in Embryonic Eyelid Epithelium
Eyelid cells share signaling components but differ in pathway activity.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research The Fraser Complex Proteins Can Form Anchoring Cords Without AMACO at the Dermal-Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
research Joint Public Review: Touch Receptor End-Organ Innervation and Function Require Sensory Neuron Expression of the Transcription Factor Meis2
Meis2 is essential for touch sensation and nerve function in mice.
research Author Response: Touch Receptor End-Organ Innervation and Function Require Sensory Neuron Expression of the Transcription Factor Meis2
The transcription factor Meis2 is essential for touch sensation and proper nerve development in touch receptors.
research Integrin Signaling Regulates YAP/TAZ to Control Skin Homeostasis
YAP and TAZ are crucial for skin cell growth and repair.
research Induction of the Hair Growth Phase in Postnatal Mice by Localized Transient Expression of Sonic Hedgehog
Activating the Sonic hedgehog gene in mice can start the hair growth phase.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Patched1 Functions as a Gatekeeper by Promoting Cell Cycle Progression
Patched1 helps prevent tumors by controlling cell growth.
research Impaired Wound Healing in Transgenic Mice Overexpressing the Activin Antagonist Follistatin in the Epidermis
Overexpressing follistatin in mice delays wound healing and reduces scar size.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Estrogen and Androgen Signaling in the Pathogenesis of Benign Prostatic Hyperplasia
Hormonal interactions, especially involving DHT and estrogen, play a key role in BPH development and treatment.
research Endocannabinoids Limit Excessive Mast Cell Maturation And Activation In Human Skin
Endocannabinoids help control mast cell activity in human skin.
research Dermal Fibroblasts in Cutaneous Development and Healing
Skin cells called dermal fibroblasts are important for skin growth, hair growth, and wound healing.
research Concise Review: Wnt Signaling Pathways in Skin Development and Epidermal Stem Cells
Wnt signaling is crucial for skin development and hair growth.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Long-Term Expansion and Differentiation of Adult Murine Epidermal Stem Cells in 3D Organoid Cultures
A new 3D culture system helps grow and study mouse skin stem cells for a long time.
research The L412F Variant of Toll-Like Receptor 3 Is Associated with Cutaneous Candidiasis, Increased Susceptibility to Cytomegalovirus, and Autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Disturbed Epidermal Structure in Mice with Temporally Controlled Fatp4 Deficiency
Fatp4 is crucial for healthy skin development and function.
research Transcriptome Reveals Long Non-Coding RNAs and mRNAs Involved in Primary Wool Follicle Induction in Carpet Sheep Fetal Skin
Certain RNA molecules are important for the development of wool follicles in sheep.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Runx3 Is Involved in Hair Shape Determination
Runx3 helps determine hair shape.