research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
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780-810 / 1000+ resultsresearch Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Non-invasive human skin transcriptome analysis using mRNA in skin surface lipids
A new non-invasive method can analyze skin mRNA to understand skin diseases better.
research The genetic basis of dermatophytosis skin infection susceptibility
Genetic factors, skin barrier, immune function, and obesity influence risk of fungal skin infections.
research MCMV Infection Lowers the Threshold for the Development of Clinical GvHD after Allogeneic Bone Marrow Transplantation.
CMV infection increases the risk of GvHD after bone marrow transplants.
research Pathogenesis in pili torti: morphological study
Pili torti hair twists due to uneven outer root sheath cell development.
research Particle-based transcutaneous administration of HIV-1 p24 protein to human skin explants and targeting of epidermal antigen presenting cells
This method is effective for needle-free HIV-1 vaccination by activating immune responses in the skin.
research Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata
The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
research Squamous cell carcinoma associated with a history of synthetic hair implantation: Two case reports
Synthetic hair implants may pose health risks, including cancer, and require careful monitoring.
research Inverse micellar sugar glass (IMSG) nanoparticles for transfollicular vaccination
IMSG nanoparticles improve vaccine delivery and immune response through hair follicles.
research Case of infective endocarditis caused by implanted artificial hair pyoderma
A man got heart infection from scalp infection caused by artificial hair implants.
research Lymphatic vessels interact dynamically with the hair follicle stem cell niche during skin regeneration in vivo
Lymphatic vessels are essential for hair follicle growth and skin regeneration.
research 1619 Spatial transcriptomic analysis of imiquimod-treated mouse skin reveals deregulation of lipid raft-associated markers which could be reversed by re-introduction of caveolin scaffolding domain peptide
The research found that a protein called caveolin-1 is reduced in psoriasis, but reintroducing it can help alleviate some psoriasis symptoms.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research 155 Exploring perceived quality of life in middle- to old-aged patients with inherited ichthyosis: a qualitative study
Inherited ichthyosis negatively impacts quality of life, affecting daily activities, self-image, and reproductive decisions.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Report of a patient with acne conglobata and perifolliculitis capitis abscedens et suffodiens
A patient with a rare scalp condition showed improvement with isotretinoin and other medications.
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.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Fabrication and in vitro evaluation of silk fibroin-folic acid decorated paclitaxel and hydroxyurea nanostructured lipid carriers for targeting ovarian cancer cells: A double sword approach
The new drug carriers show promise for better targeting and treating ovarian cancer.
research Advances in transdermal siRNAs delivery: A review of current research progress
New delivery systems are improving siRNA treatments for skin conditions.
research Connexin mutations in human disease
Connexin mutations can cause various diseases like hearing loss and skin disorders.
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 Upregulation of the truncated basic hair keratin 1(hHb1‐ΔN) in carcinoma cells by Epstein‐Barr virus (EBV)
EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
A woman with a rare hair loss condition developed skin cancer in the bald area.
research Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
research Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.