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research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Hair Casts and Cutaneous Spicules in Multiple Myeloma
Hair casts and cutaneous spicules can be signs of multiple myeloma.
research Nestin is expressed in HMB‐45 negative melanoma cells in dermal parts of nodular melanoma
Nestin helps identify certain melanoma cells in nodular melanoma.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women
The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.
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 Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer
Certain genetic markers can indicate a person's risk of developing prostate cancer.
research Reduced SMAD2/3 activation independently predicts increased depth of human cutaneous squamous cell carcinoma
Lower SMAD2/3 activation predicts more severe skin cancer.
research Commentary 2
Genetic factors play a major role in acne.
research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research Expression of MK6a dominant-negative and C-terminal mutant transgenes in mice has distinct phenotypic consequences in the epidermis and hair follicle
Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research POLYCOMB REPRESSIVE COMPLEX 1 IS REQUIRED TO MAINTAIN STEM CELL IDENTITY AND TO PRESERVE ADULT TISSUE HOMEOSTASIS.
Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
research Morphologic Markers of Acute and Chronic Stress in Child Abuse
The conclusion is that certain physical signs in the body can indicate past acute and chronic stress, which may help in child abuse investigations.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
research The Naked (N) Mutation, Chromosome 15
The naked mutation in mice causes hair loss and helps identify keratin genes.
research Significance of the polyglutamine tract polymorphism in the androgen receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Melanocyte progenitor cells reside in human subcutaneous adipose tissue
Melanocyte progenitor cells are found in human fat tissue and can become mature melanocytes, which may help treat skin issues.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Metabolic syndrome in skin tags: a hospital based observational study
Skin tags may be linked to metabolic syndrome.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Gene expression profiling suggests severe, extensive central centrifugal cicatricial alopecia may be both clinically and biologically distinct from limited disease subtypes
Severe CCCA may be biologically and clinically different from milder forms.
research Epidermal abnormalities and increased malignancy of skin tumors in human epidermal keratin 8‐expressing transgenic mice
Mice with human skin protein K8 had more skin problems and cancer.