April 2024 in “Indian Scientific Journal Of Research In Engineering And Management” PCOS affects many women and requires early detection and symptom management.
7 citations
,
January 2019 in “Postepy Dermatologii I Alergologii” Certain gene variations might be linked to severe acne in women but not in men.
3 citations
,
January 1995 in “PubMed” Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
September 2024 in “Journal of Medical Case Reports” People with keratosis pilaris might be more likely to get a rare type of tinea versicolor.
97 citations
,
March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
1 citations
,
September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
8 citations
,
September 2016 in “The American Journal of Dermatopathology” Enlarged sweat gland ducts may indicate scarring hair loss.
113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
12 citations
,
November 2014 in “Journal of Cutaneous Medicine and Surgery” Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
13 citations
,
November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
121 citations
,
December 2001 in “American Journal of Dermatopathology” TB and BCC tumors show similar follicular differentiation patterns.
4 citations
,
September 2021 in “Hormone and Metabolic Research” Different forms of the Vitamin D receptor can impact metabolic and hormone issues in Polycystic Ovary Syndrome.
22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
52 citations
,
January 2001 in “Eye” Treating cystoid macular oedema in uveitis is difficult and risky.
1 citations
,
January 2018 in “Journal of SAFOMS” A rare ovarian tumor can cause unusual male-like symptoms, but surgery usually leads to a good outcome.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
September 2024 in “Journal of the American Academy of Dermatology” A new type of alopecia areata, called the "confetti variant," causes small bald spots that often heal on their own in a few months.
1 citations
,
December 2012 in “Clinical and Experimental Dermatology” A rare calcium deposit condition was found on a man's scalp.
November 2025 in “Journal of Investigative Dermatology” PCFCL may have unrecognized subtypes and needs more research.
18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
7 citations
,
January 2013 in “Ophthalmic plastic and reconstructive surgery” A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
18 citations
,
July 2006 in “British Journal of Dermatology” Connexin 30 is usually absent in normal skin but can appear in certain skin conditions.
14 citations
,
May 2022 in “Cell Reports” Basal cell carcinomas need extra mutations to grow from small to large tumors.