research Targeted Therapy in Melanoma
New treatments for advanced skin cancer are improving patient outcomes, but drug resistance and finding the right treatment combinations are still big challenges.
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480-510 / 1000+ results research A Novel Mutation in Hr Causes Abnormal Hair Follicle Morphogenesis in Hairpoor Mouse, an Animal Model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
research Disease Versus Disease: How One Disease May Ameliorate Another
Some diseases can improve the outcomes of other diseases, leading to new treatment possibilities.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research The Role of the SLC39A Family of Zinc Transporters in Zinc Homeostasis in Skin
Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.
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 XEDAR Activates the Non-Canonical NF-κB Pathway
XEDAR triggers a specific signaling pathway in cells.
research Study on the Zona Pellucida 4 (ZP4) Gene Sequence and Its Expression in the Ovaries of Patients with Polycystic Ovary Syndrome
The research suggests that the ZP4 gene is linked to egg development in women with PCOS but requires more study to understand its role in infertility.
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 A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Roles of Wnt7a in Embryo Development, Tissue Homeostasis, and Human Diseases
Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
research Vitamin D And The Skin: A Review For Dermatologists
Vitamin D is important for skin health and can affect various skin diseases.
research Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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 A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Marie Unna Hereditary Hypotrichosis: Identification of a U2HR Mutation in the Family from the Original 1925 Report
Researchers found a gene mutation responsible for a rare hair loss condition.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research An Epistatic Effect of KRT25 on SP6 Is Involved in Curly Coat in Horses
The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
research Nonclassic 21-Hydroxylase Deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research Two Familial Cases of Olmsted-Like Syndrome with a G573V Mutation of the TRPV3 Gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Dermatopathia Pigmentosa Reticularis: A Rare Reticulate Pigmentary Disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Trichomegaly of the Eyelashes After Treatment with Erlotinib in Non-Small Cell Lung Cancer
A cancer patient's eyelashes grew excessively without other common side effects after taking the cancer drug erlotinib.
research Ligand-Independent Actions of the Vitamin D Receptor: More Questions Than Answers
The vitamin D receptor can act without its usual activating molecule, affecting hair growth and skin cancer, but its full range of actions is not well understood.
research Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research The Effects of Estrogens on Linear Bone Growth
Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
research The Hair Shaft: Normality, Abnormality, and Genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.