research Diagnosis of childhood and adolescent growth hormone deficiency using transcriptomic data
Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.
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research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Selected abstracts from the 47th meeting of the Irish Endocrine Society Sligo, 24th & 25th November 2023
Continuous glucose monitoring and GLP-1 receptor agonists improve diabetes management, but personalized care and education are crucial.
research Study on Changes of 19 Steroids in Plasma From 9 Diagnosed Patients With P450 Oxidoreductase Deficiency
Certain hormone levels can help diagnose P450 oxidoreductase deficiency.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research National scientific medical meeting 1996 abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
research CRISPR/Cas9‐mediated loss of FGF5 function increases wool staple length in sheep
Disabling the FGF5 gene in sheep leads to longer wool.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
research Epigenetics of Colorectal Cancer
Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Comparative genome analyses reveal the unique genetic composition and selection signals underlying the phenotypic characteristics of three Chinese domestic goat breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Primary TSC2-/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model
TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
research PTEN Mediates Activation of Core Clock Protein BMAL1 and Accumulation of Epidermal Stem Cells
PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
research The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs
Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Progress in Research and Prospects for Application of Precision Gene-Editing Technology Based on CRISPR–Cas9 in the Genetic Improvement of Sheep and Goats
CRISPR/Cas9 gene-editing shows promise for improving sheep and goat breeding but faces challenges with efficiency and accuracy.
research Metabolic Regulation of Hematopoietic Stem Cells in the Hypoxic Niche
Low oxygen areas help maintain and protect blood stem cells by using a simple sugar breakdown process for energy and managing their activity levels.
research CXXC5: A novel regulator and coordinator of TGF-β, BMP and Wnt signaling
CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
research Regulatory T cells in dominant immunologic tolerance
Regulatory T cells help prevent autoimmunity and have potential for treating autoimmune diseases.
research Iron Metabolism of the Skin: Recycling versus Release
Iron is crucial for skin health, with specific proteins recycling it to support skin functions and prevent its release.
research Past, Present and Future Perspectives of Forensic Genetics
Forensic genetics can now predict physical traits and lifestyle habits, with future advancements expected from new technologies.
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 Matricellular Proteins in the Homeostasis, Regeneration, and Aging of Skin
Special proteins are important for skin balance, healing, and aging, and affect skin stem cells.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research Wnt Signaling Across Adult Skin Mini-Organs: Interfollicular Epidermis, Hair Follicle, and Nail—Implications for Disease and Regeneration
Wnt signaling is crucial for skin, hair, and nail health and regeneration.
research The X Factor in Immunity: Sex Differences Shaped by the X Chromosome
Females generally have stronger immune responses than males due to the X chromosome.
research Poster Presentations at the 28th Joint Meeting of the International Society of Dermatopathology, March 5–6, 2025, Orlando, Florida, USA
Accurate diagnosis and personalized treatment are crucial in dermatopathology.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.