6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
2 citations
,
January 2025 in “Journal of Nanobiotechnology” A new engineered treatment shows promise in curing heart fibrosis.
May 2025 in “The Journal of Rheumatology” Anti-CD19 therapy may help treat SLE and NMOSD.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
129 citations
,
October 2017 in “BMC Genomics” The study improved understanding of gene roles in cashmere goat hair growth, aiding future cashmere production.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
Placental cell medium boosts blood vessel growth in lab tests.
13 citations
,
October 2020 in “BMC Genomics” Long non-coding RNAs play a key role in yak hair growth cycles.
January 2025 in “JCEM Case Reports” Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
1 citations
,
September 2024 in “Porto Biomedical Journal” Early and accurate diagnosis of primary vitreoretinal lymphoma is crucial to prevent serious complications.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
May 2025 in “BMC Genomics” Circ 0020938 slows down hair growth in cashmere goats.
May 2023 in “Journal of the Dermatology Nurses' Association” The DNA convention was a valuable opportunity for learning and networking, especially after COVID-19.
40 citations
,
June 2013 in “Molecular Pharmaceutics” The gelatin/β-TCP scaffold with nanoparticles improves wound healing and skin regeneration.
2 citations
,
October 2025 in “Antimicrobial Agents and Chemotherapy” Cepharanthine can block enterovirus entry and protect against infection.
35 citations
,
September 2009 in “Development” Necl2 affects skin cell behavior and slows wound healing.
February 2026 in “Oncology Reviews” Sacituzumab tirumotecan shows promise in treating breast cancer with manageable side effects.
1 citations
,
January 2014 in “The Journal of Dermatology” A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
1 citations
,
January 2019 in “British Poultry Science” VEGF and VEGFR-2 genes influence feather maturity, and specific genetic markers can improve chicken breeding.
The new therapy using specific stem cells from umbilical cords speeds up healing of chronic skin wounds.
4 citations
,
August 2024 in “Non-coding RNA Research”