research Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
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420-450 / 1000+ results research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
Understanding embryologic layers improves skin disorder diagnosis and supports developing targeted therapies.
research The genetic evolution of skin squamous cell carcinoma: tumor suppressor identity matters
The type of tumor suppressor gene lost affects the behavior of skin cancer.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Molecular mechanisms of asymmetric divisions in mammary stem cells
Disruptions in mammary stem cell division can lead to cancer, but targeting these processes might help treat breast cancer.
research T-Cell Reconstitution after Thymus Xenotransplantation Induces Hair Depigmentation and Loss
T-cell reconstitution after thymus transplantation can cause hair whitening and loss.
research Dual transposition flaps for the reconstruction of large scalp defects
Technique effectively reconstructs large scalp defects with minimal hair loss and visible scarring.
research Prenatal serological diagnosis of intrauterine cytomegalovirus infection.
Blood tests confirmed a baby in the womb had a CMV infection.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Conditional Activin Receptor Type 1B (Acvr1b) Knockout Mice Reveal Hair Loss Abnormality
Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
research Perinevoid Alopecia and Concentric Regrowth: Two Atypical Patterns of Alopecia Areata
Recognizing perinevoid alopecia and concentric regrowth is important for diagnosing and treating alopecia areata.
research The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities
research 499 Possible involvement of skin resident memory T cells in refractory alopecia areata
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report
Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.
research Tumor suppressor activity of ODC antizyme in MEK-driven skin tumorigenesis
Antizyme slows skin tumor growth by reducing cell growth in mice.
research Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice
External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
research Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
Selective breeding caused the unique curly hair in Mangalitza pigs.