research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
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720-750 / 1000+ results research Siberian Cats Help in Solving Part of the Mystery Surrounding Golden Cats
The CORIN gene variant causes the golden color in Siberian cats.
research Autosomal Recessive Hypotrichosis Simplex With Woolly Hair: A Report of a New Family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Faculty Opinions Recommendation of Association of Topical Minoxidil with Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants
research Scd1 ab-Xyk: A New Asebic Allele Characterized by a CCC Trinucleotide Insertion in Exon 5 of the Stearoyl-CoA Desaturase 1 Gene in Mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research HtrA1L364P Leads to Cognitive Dysfunction and Vascular Destruction Through TGF-β/Smad Signaling Pathway in CARASIL Model Mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Nonclassic 21-Hydroxylase Deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research Congenital Erythropoietic Porphyria: Five Years of Observation with Standard Treatment - A Case Report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Marie-Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis
research A Rare Case of Biotinidase Deficiency
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Association of Systemic Involvement with Skin Morphology Assessed by Multiphoton Microscopy in Pseudoxanthoma Elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
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 Uncombable Hair Syndrome Due to Maternal Uniparental Disomy of Chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Atrichia With Papular Lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Expanding The Phenotype Of Hyper-IgE Syndrome: Heterozygous Variant In IL6ST With Elevated Serum IgE And Isolated Abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Atrichia With Papular Lesions – A Case Report
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research Coexistence of Woolly Hair and Monilethrix: A Case Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Alopecia With Vitamin D-Dependent Rickets Type 2A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Clinical, Biochemical, and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.