research Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
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research Woolly Antics Between the Sheaths
Lipase H is important for hair follicle function and shaping hair fibers.
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 JAM-A Facilitates Hair Follicle Regeneration in Alopecia Areata Through Functioning as CeRNA to Protect VCAN Expression in Dermal Papilla Cells
JAM-A helps hair regrowth in alopecia areata by protecting VCAN in skin cells.
research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
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 Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Spermidine/Spermine-N1-Acetyltransferase: A Key Metabolic Regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease 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 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 Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research Non-Viral Delivery of the CRISPR/Cas System: DNA Versus RNA Versus RNP
RNA delivery is best for in-body use, while RNP delivery is good for outside-body use. Both methods are expected to greatly impact future treatments.
research Molecular Background of Phosphate Deficiency-Induced Root Hair Growth in Brassica Carinata: A Fasciclin-Like Arabinogalactan Protein Is Involved
BcFLA1 protein is crucial for root hair growth in response to low phosphate in Brassica carinata.
research Novel Insights Into the Molecular Mechanisms Underlying Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research Recent Advances in the Molecular Mechanisms Causing Primary Generalized Glucocorticoid Resistance
Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
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 Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research MCPIP1 Controls Effects of Myeloid Cells on Skin Carcinogenesis and Hair Growth
MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr)
A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
research LncRNA-miRNA-mRNA Regulatory Networks in Skin Aging and Therapeutic Potentials
ceRNA networks offer potential treatments for skin aging and wound healing.
research Correction of Hair Shaft Defects Through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research Suppression of Wnt/β-Catenin Signaling by EGF Receptor Is Required for Hair Follicle Development
Blocking Wnt/β-catenin signaling with EGF receptor is necessary for proper hair growth.
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 Nucleus-Specific Modulation of Phasic and Tonic Inhibition by Endogenous Neurosteroidogenesis in the Murine Thalamus
Brain-made chemicals can control nerve cell function differently in various parts of a mouse's brain, which may help us understand neurological conditions.
research Life Sciences Discovery And Technology Highlights
New technologies show promise in healing wounds, treating cancer, autoimmune diseases, and genetic disorders.
research Progesterone-Independent Neurosteroid Regulation of Alpha2-GABA-A Receptors in the Hippocampus Subfields
Progesterone and its byproducts control a specific receptor in the brain independently of progesterone receptors, affecting conditions related to the menstrual cycle.