research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
Search
for
Sort by
Research
660-690 / 1000+ resultsresearch New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research The Role of Probiotics and Synbiotics on Hirsutism
Probiotics and synbiotics might help manage hirsutism by improving insulin resistance.
research Shedding light on cashmere goat hair follicle biology: from morphology analyses to transcriptomic landascape
The research found genes that change during cashmere goat hair growth and could help determine the best time to harvest cashmere.
research Androgens in cervical cancer: Their role in epidemiology and biology
Androgens increase cervical cancer risk and affect its development.
research Witnessed trauma exposure induces fear in mice through a reduction in endogenous neurosteroid synthesis
Reduced neurosteroid production increases fear in mice, suggesting potential PTSD treatments.
research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
research The atypical ‘hippocampal’ glutamate receptor coupled to phospholipase D that controls stretch‐sensitivity in primary mechanosensory nerve endings is homomeric purely metabotropic GluK2
A special receptor in sensory nerve endings helps control how they respond to stretching.
research Transcriptional regulation of the thymus master regulator Foxn1
Foxn1 gene regulation is crucial for thymus development but not for hair growth.
research Autophagy protects murine preputial glands against premature aging, and controls their sebum phospholipid and pheromone profile
Autophagy prevents early aging and maintains lipid and pheromone balance in mouse glands.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Developmental and functional roles of androgen and interactive signals for external genitalia and erectile tissues
Androgen and Wnt signals are crucial for developing and functioning male genitalia and erectile tissues.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Integrated analysis of miRNAs and mRNA profiling reveals the potential roles of miRNAs in sheep hair follicle development
Certain microRNAs are important for sheep hair follicle development and could help improve wool quality.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research The role of Atg5 gene in tumorigenesis under autophagy deficiency conditions
Atg5 can promote tumors when autophagy is deficient but suppresses them under normal conditions.
research Physiology of Testicular Function
The testes produce sperm and hormones essential for male development.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research TGFβ ‐mediated inhibition of hypodermal adipocyte progenitor differentiation promotes wound‐induced skin fibrosis
Blocking TGFβ can help treat fibrotic skin conditions by promoting fat cell formation.
research Restricted effects of androgens on glucocorticoid signaling in the mouse prefrontal cortex and midbrain
Androgens can affect glucocorticoid signaling in specific mouse brain areas.
research Single cell analysis of transcriptome and open chromatin reveals the dynamics of hair follicle stem cell aging
Hair follicle stem cells change states with age, affecting hair growth and aging.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia
Inhaled substances in e-cigarettes can cause hormone imbalances similar to congenital adrenal hyperplasia.
research Differential transcriptome study on the damage of testicular tissues caused by chronic infection of T. gondii in mice
Chronic T. gondii infection may harm male fertility.
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 Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
Different PADI isoforms help cells develop diverse functions.
research Autophagy critically controls skin inflammation and apoptosis-induced stem cell activation
Autophagy helps control skin inflammation and cancer responses and regulates hair growth by affecting stem cell activity.