research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
Search
for
Sort by
Research
30 / 57 resultsresearch Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Hypotrichosis With Juvenile Macular Dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
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 Topobiology of Human Pigmentation: P-Cadherin Selectively Stimulates Hair Follicle Melanogenesis
P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Mimicking Hair Disorders by Genetic Manipulation of Organ-Cultured Human Hair Follicles
Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
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 Molecular Heterogeneity of Quiescent Melanocyte Stem Cells Revealed by Single-Cell RNA-Sequencing
Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
research Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Identification of Differentially Expressed Genes in Actinic Keratosis Samples Treated with Ingenol Mebutate Gel
Ingenol mebutate gel changes gene expression related to skin development and immune response in actinic keratosis.
research Spatio-Temporal Regulation of Gene Expression Defines Subpopulations of Epidermal Stem Cells
Different types of skin stem cells can change and adapt, which is important for developing new treatments.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Transcriptome Profiling and Differential Gene Expression in Canine Microdissected Anagen and Telogen Hair Follicles and Interfollicular Epidermis
Different genes are active in dogs' hair growth and skin, similar to humans, which helps understand dog skin and hair diseases and can relate to human conditions.
research Analysis of 72,469 UK Biobank Exomes Links Rare Variants to Male-Pattern Hair Loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.