research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
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research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research The Polish version of Skindex-29: psychometric properties of an instrument to measure quality of life in dermatology
The Polish Skindex-29 is a reliable and valid questionnaire for assessing the quality of life in Polish dermatology patients.
research Caracterização e diferenciação neural in vitro de células-tronco de polpa de dente decíduo humano
Dental pulp stem cells might not reliably become neurons.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study mapped genetic variations in sheep, linking them to traits like milk production and growth.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Selection signatures of wool color in Gangba sheep revealed by genome-wide SNP discovery
Wool color in Gangba sheep is influenced by multiple genes and genetic mechanisms.
research Data from Synergistic Function of Smad4 and PTEN in Suppressing Forestomach Squamous Cell Carcinoma in the Mouse
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
research Data from Synergistic Function of Smad4 and PTEN in Suppressing Forestomach Squamous Cell Carcinoma in the Mouse
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
research Defining the Cellular Environment in the Organ of Corti following Extensive Hair Cell Loss: A Basis for Future Sensory Cell Replacement in the Cochlea
The conclusion is that genetic differences affect how the cochlea heals after hair cell loss, which may challenge the creation of hearing loss treatments.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review
Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
research Regulation of masculinization: androgen signalling for external genitalia development
Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
research Transformation of amnion epithelium into skin and hair follicles
Mouse amnion can turn into skin and hair follicles with help from certain cells and factors.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research A Pharmacogenetic Survey of Androgen Receptor (CAG)N and (GGN)N Polymorphisms in Patients Experiencing Long Term Side Effects after Finasteride Discontinuation
Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.
research Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress
Personalized skincare can be improved by understanding genetic differences and using compounds like Resveratrol and Quercetin.
research Update on Melasma—Part I: Pathogenesis
Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research 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 Drivers of plateau adaptability in cashmere goats revealed by genomic and transcriptomic analyses
The study found that genetic differences related to hair growth and other traits help cashmere goats adapt to high-altitude environments.
research Advances in molecular pathogenesis of hidradenitis suppurativa: Dysregulated keratins and ECM signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research There and Back Again: Hair Follicle Stem Cell Dynamics
Hair follicle stem cells can return to their original niche and help regenerate hair.
research Genome wide association analysis of root hair traits in rice reveals novel genomic regions controlling epidermal cell differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Convergent Decay of Skin-specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.