research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
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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 Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza
Selective breeding caused the unique curly hair in Mangalitza pigs.
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 Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Pattern Baldness: Its Genetics Revisited
Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Monilethrix: A Rare Inherited Hair Shaft Disorder in Siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Monilethrix: A Rare Hereditary Condition
Monilethrix is a rare genetic hair disorder that's hard to treat.
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 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 Monilethrix: Case Report of a Rare Disease
Monilethrix causes fragile, patchy hair loss.
research Gene Detection in a Family With Monilethrix and Treatment With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Monilethrix of the Scalp from Almost Normal Aspect to Total Alopecia: Variable Intrafamilial Expressiveness
Monilethrix causes different levels of hair loss in family members.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Targeting Integrin Pathways: Mechanisms and Advances in Therapy
New therapies are being developed that target integrin pathways to treat various diseases.
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 Management of Congenital Adrenal Hyperplasia During Pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research Role of Caffeine in the Management of Androgenetic Alopecia
Caffeine may help hair growth in hereditary hair loss.
research Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Recommendations for Treatment of Nonclassic Congenital Adrenal Hyperplasia: An Update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
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 Non-Classic Congenital Adrenal Hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Treatment of Monilethrix with Oral Minoxidil
Oral minoxidil shows promise in treating monilethrix-related hair loss.