41 citations
,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
21 citations
,
November 2019 in “Molecular & Cellular Proteomics” Citrullinated proteins from Porphyromonas gingivalis may contribute to rheumatoid arthritis.
15 citations
,
July 2024 in “Current Issues in Molecular Biology” Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
7 citations
,
December 2024 in “Antibiotics” Cathelicidins could treat skin issues but face challenges like safety and resistance.
7 citations
,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
1 citations
,
January 2023 in “International Journal of Molecular Sciences” Understanding how Regulatory T Cells work could help create treatments for certain skin diseases and cancers.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
March 2026 in “Dermatopathology” Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
March 2025 in “European Journal of Medical Genetics” Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
11 citations
,
October 2023 in “mSphere” PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
8 citations
,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
114 citations
,
January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
29 citations
,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
26 citations
,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
710 citations
,
May 2023 in “European Urology” Prostate cancer is common, but risk can be reduced by avoiding smoking, unhealthy diet, inactivity, certain medications, and risky jobs.
186 citations
,
December 2012 in “Current opinion in cell biology” Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
160 citations
,
June 2008 in “American Journal Of Pathology” EGFR signaling is crucial for skin and hair health, and targeting it could help treat skin diseases and cancer.
89 citations
,
January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.