research Hemiagenesis of the thyroid gland detected by coincidence—what is the clinical relevance?
THA is a rare condition with no significant clinical consequences if thyroid function is normal.
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810-840 / 1000+ results research ГНОТОБИОНТЫ – ЭКСПЕРИМЕНТАЛЬНАЯ МОДЕЛЬ
Controlled microflora in animals delays immune cell maturation and affects immunity.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Cutaneous Granular Cell Tumor with Overlying Hypertrichosis in an Adult: A Rare Case Report
A rare skin tumor with extra hair growth was found and safely removed from a 27-year-old woman.
research Monilethrix
Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
research LPA-producing enzyme PA-PLA1α regulates hair follicle development by modulating EGFR signalling
The enzyme PA-PLA1α is important for proper hair follicle development.
research Identification of Androgen-Inducible TGF-β1 Derived from Dermal Papilla Cells as a Key Mediator in Androgenetic Alopecia
TGF-β1 from dermal papilla cells suppresses hair growth, and targeting it may help treat androgenetic alopecia.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
research Transforming growth factor-alpha immunoreactivity during induced hair follicle growth cycles in sheep and ferrets.
TGF-alpha is present in sheep and ferret skin and may affect hair growth without directly stimulating cell proliferation.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Testosterone Deficiency is Not Protective Against the Development of Adenocarcinoma of the Prostate in a Type 1 Diabetic Patient
Low testosterone does not prevent prostate cancer in men with type 1 diabetes.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
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 Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
research 083 More Expression of IL-17 than IFN-γ from CD49a-negative Tissue-Resident Memory T (Trm) cells at the Hair Bulge and Hair Bulb Region in the Scalp of Chronic Alopecia Areata Patients according to the Foxp3+mTregs depletion
IL-17 and certain immune cells are linked to more severe alopecia areata.
research Establishment of a murine cGVHD model with scleroderma
A mouse model for studying scleroderma in chronic graft-versus-host disease was successfully created.
research Table 1_Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study.docx
SQSTM1 is linked to increased risk of alopecia areata.
research Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
research Case Report: 8 years old boy with neurofibromatosis type one and Alopecia from KING ABDULAZIZ MEDICAL CITY OF THE NATIONAL GUARD. Saudi Arabia
An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
research Author response: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for pH balance and normal cell function in plants.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research GRANULOSA‐THECA CELL TUMOR IN A ONE‐YEAR‐OLD INFANT
A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.
research Primary Generalized Glucocorticoid Resistance and Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research miR-140-y targets TCF4 to regulate the Wnt signaling pathway and promote embryonic feather follicle development in Hungarian white goose
miR-140-y helps control feather growth in geese by affecting the Wnt signaling pathway.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research LB943 Tofacitinib treatment of inflammatory skin conditions in patients with Down Syndrome
Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
research Sjogren-Larsson syndrome
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research AGD1, a class 1 ARF‐GAP, acts in common signaling pathways with phosphoinositide metabolism and the actin cytoskeleton in controlling Arabidopsis root hair polarity
AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.