research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
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research A New Locus for Hereditary Hypotrichosis Simplex Maps to Chromosome 13q12.12-12.3 in a Chinese Family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
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 A Missense Mutation in Lama3 Causes Androgen Alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
research Hair Shaft Structures in EDAR Induced Ectodermal Dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
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 Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Cloning of Wrinkle-Free, a Previously Uncharacterized Mouse Mutation, Reveals Crucial Roles for Fatty Acid Transport Protein 4 in Skin and Hair Development
Fatty acid transport protein 4 is essential for skin and hair development.
research Decades of Progressive Red and Yellow Nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Mixed Form of Hirsutism in Adolescent Females and Laser Therapy
Laser hair removal is effective for hirsutism when combined with treatment for the underlying causes.
research Co-Occurrence of Monilethrix and Type 1 Diabetes Mellitus
The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
research Hairless Controls Hair Fate Decision via Wnt/β-Catenin Signaling
The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
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 Congenital Atrichia Associated With Nevus Flammeus: A Rare Association
A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
research An Update of Hair Shaft Disorders
Advances in genetics may lead to targeted treatments for hair disorders.
research Alopecia Areata of Eyelashes: Regrowth After Injecting Triamcinolone Into the Eyebrow Area
Injecting triamcinolone into the eyebrow area may help eyelash regrowth in alopecia areata patients.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Sparse Hair on the Scalp in a 5-Year-Old Girl
A 5-year-old girl has sparse, dry, and brittle hair but is otherwise healthy.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Ichthyosis Fetalis in a Cross-Bred Lamb
A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
research The Genetics of Androgenetic Alopecia
Genes and hormones cause hair loss, with four genes contributing equally.
research Wound Healing Impairment in Type 2 Diabetes Model of Leptin-Deficient Mice: A Mechanistic Systematic Review
Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
research Acquired Acrodermatitis Enteropathica in an Infant
An infant with a zinc deficiency skin disorder improved with zinc treatment.
research RANK as a Therapeutic Target in Cancer
RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Efficacy and Safety of Glucocorticoids in the Treatment of Progressive Muscular Dystrophy in Children: A Systematic Review and Meta-Analysis
Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.