research Birt–Hogg–Dubé Syndrome: A Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
Search
for
Sort by
Research
180-210 / 1000+ resultsresearch The Role of Mutations on Gene AR in Androgenetic Alopecia Syndrome
Mutations in the AR gene cause hair thinning and loss.
research Vulvovaginal Involvement in Netherton Syndrome: A Case Report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research Rheumatoid Arthritis and Gouty Arthritis in an Adult Patient with Down's Syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
research Gene Expression of Mouse S100A3, a Cysteine-Rich Calcium-Binding Protein, in Developing Hair Follicle
S100A3 protein is crucial for hair shaft formation in mice.
research Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Acromegaloidism With Normal Growth Hormone Secretion Associated With X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Keratosis Follicularis Spinulosa Decalvans: What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Organization and Expression of Hair Follicle Genes
Hair growth is controlled by specific gene clusters and proteins, and cysteine affects hair gene expression in sheep.
research EDA2R Is Associated With Androgenetic Alopecia
EDA2R gene linked to hair loss.
research Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases
research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Androgenetic Alopecia
research Hair Repigmentation Associated with the Use of Lenalidomide: Graying May Not Be an Irreversible Process
An 81-year-old man's white hair began to regain its original color while he was treated with lenalidomide, suggesting that graying hair might be reversible.
research Cutaneous Signals of Immune System Disease
Skin issues can indicate immune system problems.
research Epidermal Differentiation Complex: A Review on Its Epigenetic Regulation and Potential Drug Targets
Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
research DNA Dioxygenases Tet2/3 Regulate Gene Promoter Accessibility and Chromatin Topology in Lineage-Specific Loci to Control Keratinocyte Differentiation and Hair Growth
Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Female Pattern Hair Loss: Clinical Features
Hair loss in women can be caused by genetics, menopause, certain health conditions, and emotional stress, and it often results in thinner hair and a changing hairline.
research Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Tofacitinib Treatment of Inflammatory Skin Conditions in Patients With Down Syndrome
Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
research Lanceolate Hair-J (LahJ): A Mouse Model for Human Hair Disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Human Leukocyte Antigen Class II Alleles Are Associated with Risk of Alopecia Areata
Certain HLA class II alleles increase or decrease the risk of alopecia areata.
research Runx1 Transcription Factor Is Involved in the Regulation of KAP5 Gene Expression in Human Hair Follicles
Runx1 helps control the KAP5 gene in human hair follicles.
research Testosterone: The Male Sex Hormone
More research is needed to understand how testosterone is maintained in adult males.
research Spatial Transcriptomics of a Giant Pilomatricoma
The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.