13 citations
,
June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
November 2025 in “Wound Repair and Regeneration” Single-cell sequencing shows that different types of macrophages have unique roles in wound healing.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
6 citations
,
August 2024 in “Biomacromolecules” The model helps test drugs for clubfoot fibrosis by mimicking cell environments and shows minoxidil reduces harmful collagen links.
1 citations
,
December 2018 in “Journal of cutaneous pathology” Some skin growths with mucin can form hair follicles and resemble skin cancer, but a special stain can help tell them apart.
8 citations
,
September 2016 in “The American Journal of Dermatopathology” Enlarged sweat gland ducts may indicate scarring hair loss.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
8 citations
,
November 2020 in “Skin Research and Technology” Enlarged facial pores are denser, more contrasted, and linked to changes in skin structure and hair follicles.
33 citations
,
March 2018 in “Trends in cell biology” Metabolism plays a key role in determining stem cell fate.
5 citations
,
August 2015 in “Sultan Qaboos University medical journal” Vitamin B12 deficiency can cause skin darkening and other symptoms, which improve with B12 supplements.
January 2025 in “Clinical Case Reports” Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
1 citations
,
December 2012 in “Clinical and Experimental Dermatology” A rare calcium deposit condition was found on a man's scalp.
22 citations
,
August 2021 in “Frontiers in medicine” Immune cells in Hidradenitis suppurativa become more inflammatory and may be important for treatment targets.
28 citations
,
November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
19 citations
,
September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
7 citations
,
January 1988 3 citations
,
January 1994
April 2020 in “Journal of the Endocrine Society” A rare ovarian tumor that produced testosterone caused a blood clot in the lungs and increased red blood cells in a woman.
3 citations
,
December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
23 citations
,
June 2016 in “Journal of Veterinary Internal Medicine” Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
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.
A new genetic mutation was found causing hair and eye issues in a boy.
3 citations
,
July 2024 in “Annals of Biomedical Engineering” Multiphoton microscopy can effectively detect early endometrial cancer by analyzing collagen changes.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
December 2025 in “Frontiers in Endocrinology” High chromogranin A levels are linked to obesity and inflammation in polycystic ovary syndrome.