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Mutational Spectrum of EDA, EDAR, EDARADD, and WNT10A Genes in the Largest Cohort of Russian Patients With Hypohidrotic Ectodermal Dysplasia

research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia

February 2026 in “Orphanet Journal of Rare Diseases”

Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.

research Insulin Resistance and Polycystic Ovary Syndrome

November 2004 in “John Wiley & Sons, Ltd eBooks”

Insulin resistance is linked to PCOS and can lead to other health issues, but treatments like metformin can help manage symptoms.

Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function

research Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function

17 citations , February 2015 in “Cell Death and Disease”

Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.

research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

115 citations , October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)

21 citations , January 2018 in “Anticancer Research”

NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.

research Keratosis follicularis spinulosa decalvans in a female

17 citations , January 2011 in “Indian journal of dermatology, venereology, and leprology”

A rare genetic skin condition usually affecting males was found in a 9-year-old girl.

Psychosocial Impact of Wigs or Hairpieces on Perceived Quality of Life in Female Patients with Alopecia Areata

research Psychosocial impact of wigs or hairpieces on perceived quality of life level in female patients with alopecia areata

9 citations , December 2012 in “The Journal of Dermatology”

Wearing wigs or hairpieces improves self-esteem, adaptability, and competence in women with alopecia areata.

Hereditary Vitamin D Resistant Rickets (HVDRR) Case Series: Phenotype, Genotype, Conventional Treatment, and Adjunctive Cinacalcet Therapy

research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy

1 citations , January 2024 in “Pediatric Endocrinology Diabetes and Metabolism”

Cinacalcet may help treat hereditary vitamin D resistant rickets safely.

research A computationally inferred regulatory heart aging model including post-transcriptional regulations

1 citations , December 2016

Researchers created a model to understand heart aging, highlighting key genes and pathways, and suggesting miR-208a as a potential heart attack biomarker.

Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

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

June 2024 in “Research Square (Research Square)”

Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.

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