research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Candidate genes of SARS-CoV-2 gender susceptibility
Men are more affected by COVID-19 due to differences in immune responses and protein expression.
research Thyroid diseases and skin autoimmunity
Thyroid diseases may contribute to autoimmune skin diseases, and more research is needed on their relationship.
research Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
research The use of mesenchymal stromal cells in the treatment of coronavirus disease 2019
Mesenchymal stromal cells may help treat severe COVID-19, but more research is needed to confirm their effectiveness.
research Analysis of the FGF gene family provides insights into aquatic adaptation in cetaceans
Whale genes show changes that help them live in water, like less hair and better flippers.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research New Pharmaceutical Concepts for Sebaceous Gland Diseases: Implementing Today’s Pre-Clinical Data into Tomorrow’s Daily Clinical Practice
New treatments for skin conditions related to the sebaceous gland are being developed based on current research.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Telocytes: current methods of research, challenges and future perspectives
Telocytes have potential in therapy and tissue regeneration, but challenges in identification and cultivation remain.
research Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema
The conclusion suggests a new way to classify bradykinin-mediated angio-oedema based on different causes and its possible link with urticaria, which could improve diagnosis and treatment.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss
MC4R gene variants not linked to female hair loss.
research Tp63-expressing adult epithelial stem cells cross lineages boundaries revealing latent hairy skin competence
Adult stem cells with Tp63 can form hair and skin cells when placed in new skin, showing they have hidden abilities for skin repair.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovary syndrome
HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.
research Transcriptome analyses of reprogrammed feather / scale chimeric explants revealed co-expressed epithelial gene networks during organ specification
Key genes can rewire networks, changing skin appendage types.
research Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research High-throughput phenotyping methods for quantifying hair fiber morphology
Hair fiber shape and curvature are not significantly linked when ancestry is considered.
research ELL Facilitates RNA Polymerase II–Mediated Transcription of Human Epidermal Proliferation Genes
ELL is crucial for gene transcription related to skin cell growth.
research Identification of differentially expressed genes in actinic keratosis samples treated with ingenol mebutate gel
Ingenol mebutate gel changes gene expression related to skin development and immune response in actinic keratosis.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Association between genetically predicted rheumatoid arthritis and alopecia areata: a two-sample Mendelian randomization study
People with rheumatoid arthritis have a higher risk of developing alopecia areata.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Adrenal Cortex Tumors and Hyperplasias
Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.