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.
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210-240 / 1000+ resultsresearch Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Alopecia induced by lopinavir plus ritonavir therapy in an HIV patient.
An HIV patient's complete hair loss was reversed after switching from lopinavir/ritonavir to nelfinavir.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research New and Consolidated Therapeutic Options for Pubertal Induction in Hypogonadism: In-depth Review of the Literature
There are various effective hormone treatments for puberty induction in boys and girls with hypogonadism, and starting treatment early is important.
research Variation in the ovine keratin-associated protein 15-1 gene affects wool yield
Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
research Mechanisms of proton inhibition and sensitization of the cation channel TRPV3
Acid can block TRPV3 from outside the cell but boost its function from inside.
research Oral Lichen Planus
Oral lichen planus is a chronic disease causing mouth discomfort and sometimes needs immunosuppressive treatment.
research Characterisation of Ovine KRTAP19-3 and Its Impact on Wool Traits in Chinese Tan Sheep
Specific gene variants affect wool traits in Chinese Tan sheep.
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 Immunological challenges associated with artificial skin grafts: available solutions and stem cells in future design of synthetic skin
Artificial skin grafts face immune rejection, but stem cells may improve future designs.
research Efficacy of neutral electrolyzed water vs. common topical antiseptics in the healing of full‑thickness burn: Preclinical trial in a mouse model
Superoxidized electrolyzed solution (SES) is more effective for burn healing than common antiseptics.
research Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis
Certain gene variants can influence acne risk and severity.
research Identification of the Ovine Keratin-Associated Protein 26-1 Gene and Its Association with Variation in Wool Traits
Selecting specific KRTAP26-1 gene variants can improve wool quality in sheep.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research The JAK/STAT signaling pathway: from bench to clinic
The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
research Tannic acid-functionalized 3D porous nanofiber sponge for antibiotic-free wound healing with enhanced hemostasis, antibacterial, and antioxidant properties
The sponge heals wounds without antibiotics and has strong antibacterial and antioxidant properties.
research Design, Synthesis and Evaluation of N13-Substituted Evodiamine Derivatives against Human Cancer Cell Lines
N13-substituted evodiamine derivatives improved anticancer activity and solubility, showing promise for drug development.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Hypertension's 3 Dilemmas and 3 Solutions: Pharmacology of the Kidney in Hypertension
Re-evaluating minoxidil, reducing sodium intake, and addressing arteriolar hypertrophy can improve hypertension management.
research Recent Progress in Health Benefits of Hederagenin and Its Glycosides
Hederagenin shows promise for cancer and inflammation treatment but needs modifications to improve effectiveness.
research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Dynamic immunomodulatory nanoarchitectonics: Rewiring tissue regenerative microenvironment via intelligent regulation
Nanotechnology can improve tissue healing by controlling immune responses.
research Biological therapy in the treatment of melanoma
Biological therapy boosts the immune system to effectively fight melanoma.
research Avaliação do perfil fenotípico, proliferativo e secretório de células-tronco mesenquimais do tecido adiposo captadas por lipoaspiração assistida por laser
Mesenchymal stem cells from laser-assisted liposuction are as effective and safe as those from conventional methods for cell therapy.
research Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne
Genetic variations affecting skin structure play a key role in severe acne.
research Neuronal plasticity of the “brain–skin connection”: stress-triggered up-regulation of neuropeptides in dorsal root ganglia and skin via nerve growth factor-dependent pathways
Stress increases certain chemicals in the skin and nerves, which might worsen skin conditions.
research Estuarine bed-sediment-quality data collected in New Jersey and New York after Hurricane Sandy, 2013
Hurricane Sandy increased contamination in estuarine sediments in New Jersey and New York.