research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
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780-810 / 1000+ resultsresearch Direct cellular reprogramming enables development of viral T antigen–driven Merkel cell carcinoma in mice
Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Could baricitinib treat frontal fibrosing alopecia and facial papules?
Baricitinib may help treat frontal fibrosing alopecia and facial papules.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Expression of keratins K6 and K16 in regenerating mouse epidermis is less restricted by cell replication than the expression of K1 and K10.
Keratins K6 and K16 are expressed more freely in regenerating mouse skin than K1 and K10.
research The relative efficacy of monotherapy with Janus kinase inhibitors, dupilumab and apremilast in adults with alopecia areata: Network meta‐analyses of clinical trials
JAK inhibitors are more effective and safer for treating alopecia areata than dupilumab and apremilast.
research Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis
Cancer risk is linked to the balance of mutations and environmental factors, not just the number of mutations.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Comparative efficacy of oral Janus kinase inhibitors and biologics in adult alopecia areata: A systematic review and Bayesian network meta‐analysis
Baricitinib is the most effective treatment for alopecia areata.
research The evaluation of IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms in Egyptian patients with alopecia areata: a case–control study
These gene variations are not linked to alopecia areata in Egyptians.
research Molecular landscape of lung cancer: insights into therapeutic targets and clinical outcomes
New treatments targeting genetic mutations in lung cancer are needed for better outcomes.
research Cultured Human Foreskin as a Model System for Evaluating Ionizing Radiation-Induced Skin Injury
Human foreskin does not show aging or reduced cell growth after radiation, and H2A.J is not a good marker for radiation-induced aging.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
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 Rebound effect associated with JAK inhibitor use in the treatment of alopecia areata
Stopping JAK inhibitor treatment for hair loss can lead to worse hair loss than before the treatment.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research 1322 Molecular profiling of frontal fibrosing alopecia (FFA) reveals TH1 and JAK-STAT up-regulation with no suppression of hair keratins
Frontal fibrosing alopecia shows increased inflammation and JAK-STAT pathway activity without reduced hair proteins.
research In vivo Alteration of the Keratin 17 Gene in Hair Follicles by Oligonucleotide-directed Gene Targeting
Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
research 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Oncogenic Kras induces spatiotemporally specific tissue deformation through converting pulsatile into sustained ERK activation
The Kras mutation changes normal cell signals, leading to disrupted tissue structure and potential cancer.
research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research 061 Selective inhibition of tyrosine kinase 2 prevents and restores interleukin-12-induced hair follicle immune privilege collapse: a novel approach to alopecia areata therapy?
Blocking IL-12 can help treat alopecia areata by preventing hair follicle immune issues.
research 865 Conditional ablation of JAK-STAT5 signaling induces anagen hair growth
Blocking JAK-STAT5 signaling in mice leads to hair growth.
research Targeted expression of spermidine/spermine N1-acetyltransferase increases susceptibility to chemically induced skin carcinogenesis
Increasing SSAT makes skin more prone to cancer.
research Skin Keratins
Keratins are important for skin cell health and their problems can cause diseases.