research 874 Elevated expression of osteopontin splice variants in nonmelanoma skin cancer compared to normal skin and adult keratinocytes
Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.
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420-450 / 1000+ results research Unravelling the threads of central centrifugal cicatricial alopecia
Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Decision letter: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Effect of PTPN22, FAS/FASL, IL2RA and CTLA4 genetic polymorphisms on the risk of developing alopecia areata: A systematic review of the literature and meta-analysis
The T allele of the PTPN22 gene may increase the risk of alopecia areata.
research 1458 EMT-inhibiting transcription factor Ovol2 regulates directional cell migration and proliferation in adult skin epithelia
Ovol2 is important for proper skin healing and hair growth.
research Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
research Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome
DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
research Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research Multi-Omics Mendelian Randomization Reveals Causal Oxidative Stress Genes in Androgenetic Alopecia.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research An in vivo method for the detection of somatic mutations at the cellular level in mice
A new method can detect mutations in mice by observing changes in hair follicle cells.
research A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients
A specific gene variant is linked to a higher risk of hair loss from chemotherapy in breast cancer patients.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Gene expression of FOXA1 and CCL2 in different phenotypes of infertile women with polycystic ovarian syndrome
FOXA1 and CCL2 genes are more active in women with PCOS, varying by phenotype.
research Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women
Certain gene variations may increase the risk of PCOS in South Indian women.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Role of polymorphism of the androgen receptor gene andnon-random x chromosome inactivation in the pathogenesisof androgenic alopecia
Certain genes and X chromosome patterns may significantly contribute to the development of hair loss.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research CUTANEOUS MANIFESTATIONS OF POLYCYSTIC OVARIAN DISEASE
Skin problems like excessive hair growth, acne, and dark skin patches can be signs of Polycystic Ovarian Disease, which may also be linked to family history and a risk for diabetes.
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Molecular basis of androgen receptor diseases
Mutations in the androgen receptor gene cause various disorders.
research Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.