research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
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60-90 / 1000+ resultsresearch A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research The Double Edge Sword of Testosterone’s Role in the COVID-19 Pandemic
Testosterone may influence COVID-19 severity and outcomes.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Genetics of infertility and “assisted fertilization” in the Bible: The case of Abraham and his family
Abraham's family infertility may have a genetic explanation.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research SUN-174 Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
research 316 Specialized ribosomes in human dermal fibroblast senescence
Specialized ribosomes affect aging in human skin cells.
research 313 Different polyamine levels in the vertex and occipital hair of pattern hair loss patients
People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research A multicenter evaluation of 10% sulfacetamide sodium in a 10% urea vehicle scalp treatment lotion and a 10% urea deep cleansing antibacterial shampoo for the treatment of seborrheic dermatitis of the scalp
The lotion and shampoo effectively treated scalp seborrheic dermatitis.
research Role of the Wnt signaling pathway in keratoacanthoma
The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research Retiform Sertoli-Leydig Cell Ovarian Tumour Presenting with Psammoma Bodies: A Rare Case Report
A rare ovarian tumor was successfully treated with surgery and chemotherapy.
research Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus
The Apc gene is crucial for normal skin and thymus development.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Targeted therapy in melanoma
New treatments for advanced skin cancer are improving patient outcomes, but drug resistance and finding the right treatment combinations are still big challenges.
research Aberrant inflammasome activation as a driving force of human autoimmune skin disease
Faulty inflammasome activation may lead to autoimmune skin diseases and could be a target for new treatments.
research Lower prostate cancer risk in Swedish men with the androgen receptor E213 A-allele
Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
research Adrenal causes of endocrine hypertension in childhood or adolescence
Adrenal disorders often cause high blood pressure in young people.
research Lichen Planopilaris and Frontal Fibrosing Alopecia as Model Epithelial Stem Cell Diseases
Lichen Planopilaris and Frontal Fibrosing Alopecia may help us understand hair follicle stem cell disorders and suggest new treatments.
research Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis
FFA's causes may include environmental triggers and genetic factors.
research p63: a crucial player in epithelial stemness regulation
p63 is essential for controlling epithelial stem cells and tissue health.
research Ectodysplasin research—Where to next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Copy number variation regions in Nellore cattle: Evidences of environment adaptation
Nellore cattle have genetic variations linked to their adaptation to tropical environments.
research Fibrous Papule of the Face, Similar to Tuberous Sclerosis Complex-Associated Angiofibroma, Shows Activation of the Mammalian Target of Rapamycin Pathway: Evidence for a Novel Therapeutic Strategy?
Topical rapamycin may effectively treat fibrous papules on the face.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes (Hospitalization and Surgery)
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Acne-Associated Syndromes
Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.