research The Charnoly body as a universal biomarker of cell injury
Charnoly bodies could be a marker for cell damage, and certain nutrients and proteins might prevent them, potentially helping with brain diseases and cancer.
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600-630 / 1000+ results research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Allelic frequencies for the seventeen Y-STR loci observed in Iraqi male patients with prostate cancer
Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation
A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research Progressive Alopecia Reveals Decreasing Stem Cell Activation Probability during Aging of Mice with Epidermal Deletion of DNA Methyltransferase 1
Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
research Microphthalmic-associated transcription factor integrates melanocyte biology and melanoma progression.
Mitf plays a key role in melanoma progression and is linked to disease stage.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Mitochondrial dysfunction in metabolic syndrome and inflammatory skin disease
Mitochondrial dysfunction links metabolic syndrome and inflammatory skin diseases, suggesting targeted therapies and lifestyle changes.
research The molecular pathogenesis of Trichilemmal carcinoma
Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research 1340 Basal keratinocytes exhibit age-related epigenetic and transcriptomic alterations resulting in an altered metabolic profile
Aging changes skin cells, leading to different DNA methylation and gene activity, affecting cell metabolism and aging signs.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
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 Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Observations that suggest a contribution of altered dermal papilla mitochondrial function to androgenetic alopecia
Hair loss in men might be linked to changes in cell energy factories.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Primary TSC2-/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model
TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.