research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
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360-390 / 1000+ resultsresearch 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 Trichorhinophalangeal Syndrome with Low Expression of TRPS1 on Epidermal and Hair Follicle Epithelial Cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations
Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Learning From Nudity: Lessons From The Nude Phenotype
The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research Genetic Ablation of Myelin Protein Zero-Like 3 in Mice Increases Energy Expenditure, Improves Glycemic Control, and Reduces Hepatic Lipid Synthesis
Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Case of Epidermolytic Ichthyosis with a Novel L157P Mutation in KRT10 Complicated by Hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research The Lysosomal Protease Cathepsin L Is an Important Regulator of Keratinocyte and Melanocyte Differentiation During Hair Follicle Morphogenesis and Cycling
Cathepsin L is essential for normal hair growth and development.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Lamins in Development, Tissue Maintenance, and Stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research Targeting Superficial or Nodular Basal Cell Carcinoma with Topically Formulated Small Molecule Inhibitor of Smoothened
The topical inhibitor CUR61414 was not effective in treating basal cell carcinoma in human trials.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene
Researchers found a new mutation causing total hair loss from birth.
research Rabson-Mendenhall Syndrome: Two Case Reports and a Brief Review of the Literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Taking Advantage of Phenotype Variability in a Local Animal Genetic Resource: Identification of Genomic Regions Associated with the Hairless Phenotype in Casertana Pigs
Researchers found two genes that may explain why some Casertana pigs don't have hair.
research The Role of P-Cadherin in Skin Biology and Pathology: Lessons from the Hair Follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research Ligand-Independent Regulation of the Hairless Promoter by Vitamin D Receptor
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
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 FGF Signaling for Hair Cycle Resting Phase Alleviates Radiation Alopecia
FGF18 treatment during hair's resting phase can protect against hair loss from radiation.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.