research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
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750-780 / 1000+ resultsresearch A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Genomic prediction and genome-wide association studies of morphological traits and distraction index in Korean Sapsaree dogs
Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Beard Alopecia: An Updated and Comprehensive Review of Etiologies, Presentation and Treatment
Different causes of beard hair loss have various treatments, including medications, lifestyle changes, and procedures to stimulate hair growth.
research Trailing the Path to Preventive Oncology
Preventing cancer involves lifestyle changes, vaccinations, early screening, and understanding cancer's molecular basis.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research Prevalence, Symptomatology and Herbal Management of Polycystic Ovarian Syndrome
Herbal remedies like Asparagus racemosus and Tinospora cordifolia may help manage PCOS symptoms.
research Comparative Analysis of Chloroplast Genomes in Sansevieria Reveals Phylogenetic Relationships and High Variability Molecular Markers
Sansevieria and Dracaena are evolutionarily linked, and a specific gene marker can distinguish closely related species.
research Male polycystic ovarian syndrome phenotype: a meta-analysis of endocrine-metabolic dysregulation in fathers and brothers of PCOS-affected women
Male relatives of women with PCOS show similar health issues, suggesting a male version of the condition.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Spectrum of Phenotypes Associated with Human MC1R Variations
MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
research Understanding Polycystic Ovary Syndrome: A Comprehensive Guide
PCOS is a common hormonal disorder in women that causes various symptoms and health risks, requiring personalized treatment.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Topical Finasteride: A Comprehensive Review of Androgenetic Alopecia Management for Men and Women
Topical finasteride might be a good alternative for hair loss treatment with fewer side effects, but more research is needed.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Role of polymorphism of the androgen receptor gene andnon-random x chromosome inactivation in the pathogenesisof androgenic alopecia
Certain genes and X chromosome patterns may significantly contribute to the development of hair loss.
research Role of Phenylalanine and Its Metabolites in Health and Neurological Disorders
Phenylalanine may help with depression but can cause issues if not properly processed.
research Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
Reduced plakoglobin and steroid abuse increase the risk of heart rhythm issues.
research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Polymorphisms in the promoter regions of the CXCL1 and CXCL2 genes contribute to increased risk of alopecia areata in the Korean population
Certain gene variations increase the risk of alopecia areata in Koreans.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Analysis of gene expression patterns and levels in maize hybrids and their parents
Maize hybrids show better early growth due to complex gene interactions from their parent strains.
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 Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia
AR polyglycine repeat doesn't cause baldness.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.