research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
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420-450 / 1000+ resultsresearch KRASG12D mutant cells are outcompeted by wild type neighbours in adult pancreas in an EPHA2-dependent manner
Normal cells outcompete and remove mutant cells in the pancreas with the help of the EphA2 receptor.
research JAK-STAT1 as therapeutic target for EGFR deficiency-associated inflammation and scarring alopecia
Targeting JAK-STAT1 can reduce inflammation and promote hair growth in conditions linked to EGFR deficiency.
research Selective Janus kinase 1 inhibition resolves inflammation and restores hair growth offering a viable treatment option for alopecia areata
Blocking Janus kinase 1 helps stop inflammation and regrow hair, making it a good treatment for hair loss from alopecia areata.
research Impact of mTORC1 inhibition on keratinocyte proliferation during skin tumor promotion in wild‐type and BK5.AktWT mice
Rapamycin reduces skin cell growth and tumor development by affecting cell signaling in mice.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Adverse events in patients treated with Jak‐inhibitors for alopecia areata: A systematic review
JAK-inhibitors for alopecia areata are generally safe with mostly mild side effects and a low rate of treatment withdrawal.
research JAK-inhibitors in the therapy of comorbid diseases – atopic dermatitis and alopecia areata: literature review and experience of clinical practice
JAK inhibitors effectively treat severe atopic dermatitis and alopecia areata.
research Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research JAK Inhibitor Therapy in Alopecia Areata with Latent Hepatitis B Virus or Tuberculosis Infection: A Safety Assessment
JAK inhibitors can be safely used for alopecia areata in patients with latent hepatitis B or stable tuberculosis with proper monitoring.
research Loss of Keratin K2 Expression Causes Aberrant Aggregation of K10, Hyperkeratosis, and Inflammation
Loss of keratin K2 causes skin problems and inflammation.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Investigating the Genetic Association of Selected Candidate Loci with Alopecia Areata Susceptibility in Jordanian Patients
No significant genetic link to alopecia areata was found in the Jordanian group.
research LB1028 Spontaneous keloid eruption in a patient on dialysis
Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib
Ruxolitinib helped a patient with alopecia areata regrow hair.
research SYSTEMATIC REVIEW OF ORAL JANUS KINASE INHIBITORS IN ALOPECIA AREATA: INSIGHTS FROM 2020 TO 2025 STUDIES
Oral JAK inhibitors effectively treat alopecia areata and are generally well-tolerated.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Systemic Inflammation Marker Alterations in Severe Alopecia Areata Patients Treated with Janus Kinase Inhibitors
Janus kinase inhibitors reduce inflammation markers in severe alopecia areata patients.
research CS12192 Reverses Alopecia Areata by Selectively Targeting JAK3/JAK1/TBK1.
CS12192 effectively treats alopecia areata with better safety than current options.
research JAK1 Signaling Is Involved in the Induction of Mechanical Alloknesis in Atopic Dermatitis
JAK1 inhibitors can help reduce itchiness in atopic dermatitis.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Cyclooxygenase-2 overexpression in the skin of transgenic mice results in suppression of tumor development.
Overexpressing COX-2 in mice skin reduces skin tumor development.
research Protein kinase Cepsilon is linked to 12-O-tetradecanoylphorbol-13-acetate-induced tumor necrosis factor-alpha ectodomain shedding and the development of metastatic squamous cell carcinoma in protein kinase Cepsilon transgenic mice.
Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
research Immunohistochemical analysis of procathepsin L and cathepsin B in cutaneous Kaposi's sarcoma
Kaposi's sarcoma lesions might originate from benign tissue changes.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Keratin 17 in disease pathogenesis: from cancer to dermatoses
Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.