research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
Search
for
Sort by
Research
750-780 / 1000+ resultsresearch 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.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Stretching the limits: from homeostasis to stem cell plasticity in wound healing and cancer
Stem cell plasticity is crucial for wound healing but can also contribute to cancer development.
research Molecular basis of hypohidrotic ectodermal dysplasia: an update
Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans
Certain DNA variants can predict straight hair in Europeans but are not highly specific.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.