November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
January 2010 in “Journal of Animal Science” Transcutaneous vaccination using nanoparticles can enhance immune responses and reduce basal cell carcinomas.
4 citations
,
April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
6 citations
,
February 2024 in “Pharmaceutics” ELIP-based CRISPR delivery improves heart disease gene editing but needs more testing.
April 2019 in “Journal of Investigative Dermatology” Merkel cell carcinoma is most likely to recur within two years of diagnosis, and factors like immune suppression, being over 75, and male sex increase this risk.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
6 citations
,
January 2022 in “BIO-PROTOCOL” The protocol allows easy imaging of dividing cells in C. elegans and can be used for other organisms.
3 citations
,
January 2023 in “American journal of physiology. Cell physiology” Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
1 citations
,
October 2019 in “Journal of Thoracic Oncology” Chemotherapy adds to, but doesn't enhance, the effects of immunotherapy in lung cancer treatment.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
226 citations
,
May 2004 in “Journal of Biological Chemistry” Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
101 citations
,
November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
10 citations
,
February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
March 2010 in “Ejc Supplements” CK 5/6 expression in breast cancer is linked to negative hormone receptor status and higher tumor grade.
July 2024 in “Journal of Investigative Dermatology” Targeting TCR-Vβ2 in cutaneous T cell lymphoma shows promise for safer, more specific treatment.
July 2025 in “Journal of Investigative Dermatology”
July 1999 in “Hair transplant forum international” Slot grafting can improve hair transplantation results.
3 citations
,
October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
9 citations
,
June 2017 in “Pharmacological Reports” ATP-sensitive potassium channels play a role in chloroquine-induced itch in mice.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
IL-18 signaling helps mature Tregs move into the thymus.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
6 citations
,
March 2014 in “Livestock science” Researchers created a genetic library from a cashmere goat's skin and found new genes linked to hair growth.
37 citations
,
January 1993 in “Journal of Investigative Dermatology” January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.