research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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research Thy1 marks a distinct population of slow-cycling stem cells in the mouse epidermis
A specific group of slow-growing stem cells marked by Thy1 is crucial for skin maintenance and healing in mice.
research Multifocal Malignant Proliferating Trichilemmal Tumour: A Diagnostic Imitator Beyond the Scalp
Recognizing specific markers is crucial for correctly diagnosing and treating rare multifocal MPTT in males.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Intravital longitudinal wide-area imaging of dynamic bone marrow engraftment and multilineage differentiation through nuclear-cytoplasmic labeling
Transplanted bone marrow cells actively move, form clusters, and grow after transplantation.
research Cutaneous extramedullary haematopoiesis: Implications in human disease and treatment
Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
research 7696 Ovarian Steroid Cell Tumor Presenting As Non-classical Adrenal Hyperplasia
Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.
research Hair Shaft Abnormalities. Pili Bifurcati: A Scanning Electron Microscopy Analysis
The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed
Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research 268 Male-pattern baldness and its association with coronary heart disease
Male-pattern baldness has a weak link to heart disease and some related health conditions.
research Visualization of individual cell division history in complex tissues
The tool iCOUNT helps understand how stem cells divide and affect tissue development and repair.
research Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome
DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
research Serum anti-Müllerian hormone: A potential biomarker for polycystic ovary syndrome
AMH is a promising biomarker for diagnosing PCOS.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
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 Transcriptional profiling of putative human epithelial stem cells
Alpha 6 + /MHCI - cells have stem cell traits and are similar to mouse hair follicle stem cells.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Alopecia Areata is associated with MICA and an extended HLA haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
research Hyaluronate Accumulation and Decreased CD44 Expression in Perifollicular Solitary Cutaneous Myxoma
Reduced CD44 expression may cause abnormal hyaluronate buildup in cutaneous myxoma.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
PTCH gene mutations contribute to basal cell carcinoma development.
research 766 H3K9me3 methyltransferase SETDB1 controls retrotransposon silencing, DNA methylation, constitutive heterochromatin maintenance and 3D-chromatin structure in epidermal keratinocytes
SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.