January 2022 in “Yonsei Medical Journal” Spironolactone helps reduce fluid in the eye in Central Serous Chorioretinopathy, but doesn't improve vision and recurrence is common.
70 citations
,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
5 citations
,
June 2015 in “The Journal of Dermatology” HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
September 2024 in “Electronic Journal of General Medicine” Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
5 citations
,
January 2014 in “Indian Journal of Nephrology” A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
May 2025 in “The Journal of Rheumatology” Trans-esophageal echocardiography is crucial for accurately diagnosing heart issues in lupus patients.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
1 citations
,
February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
15 citations
,
September 2018 in “Frontiers in Plant Science” BcFLA1 protein is crucial for root hair growth in response to low phosphate in Brassica carinata.
10 citations
,
March 2021 in “Clinical Cosmetic and Investigational Dermatology” Certain gene variants are linked to severe acne, especially in males.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
1 citations
,
January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
47 citations
,
February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
September 2024 in “Portuguese Journal of Dermatology and Venereology” CCCA and LPP may be related hair loss conditions influenced by genetics and environment, needing early treatment.
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.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
3 citations
,
September 2022 in “Animal biotechnology” lncRNA MTC affects protein levels in goat skin cells, impacting hair growth.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
March 2021 in “Research Square (Research Square)” The SbbHLH85 protein helps sweet sorghum grow more root hairs but makes the plant more sensitive to salt.