research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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420-450 / 1000+ resultsresearch Regulatory Mutations in TBX3 Disrupt Asymmetric Hair Pigmentation That Underlies Dun Camouflage Color in Horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
research The Character 'Hairless' in the Mouse
Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Adam10 Haploinsufficiency Causes Freckle-Like Macules in Hairless Mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Loss-Of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research DMBA/TPA Treatment Is Necessary for Basal Cell Carcinoma Formation from Patched Deficient Epidermal Cells in Ptch Flox/Flox CD4Cre +/- Mice
Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
research The Mouse Hairy Ears Mutation Exhibits an Extended Growth (Anagen) Phase in Hair Follicles and Altered Hoxc Gene Expression in the Ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research The Retarded Hair Growth Mutation in Mice Is an Allele of Ornithine Aminotransferase
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research A Missense Mutation in Lama3 Causes Androgen Alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
research Molecular Genetics of Androgen Insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
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 A Frameshift Insertion in SGK3 Leads to Recessive Hairlessness in Scottish Deerhounds: A Candidate Gene for Human Alopecia Conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Fetal Alpha 5-Reductase Val89Leu Mutation Is Associated With Late Miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research Novel and Recurrent Mutations in the AIRE Gene of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) Patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Insights Learned from L457(3.43)R, an Activating Mutant of the Human Lutropin Receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.