7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
6 citations
,
March 2024 in “Journal of Clinical Laboratory Analysis” Certain genetic variations in IGF2BP2 and IGFBP3 are linked to a higher risk of PCOS.
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.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
9 citations
,
March 2023 in “Chemosphere” Certain pesticides may delay sexual maturity in teenage boys.
5 citations
,
January 2025 in “Science Advances” 5α-reductase 2 is crucial for stress response in male rats.
32 citations
,
April 2014 in “American Journal of Clinical Dermatology” People with psoriasis are more likely to have Metabolic Syndrome than those without psoriasis.
124 citations
,
July 1997 in “Journal of Biological Chemistry” Overexpressing a specific enzyme in mice causes hair loss and female infertility.
8 citations
,
May 2021 in “Reproductive Biology and Endocrinology” Different levels of anti-Müllerian hormone can help diagnose polycystic ovary syndrome in women of different ages.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
34 citations
,
January 2020 in “IEEE Access” A model called PM-DBiGRU was developed for analyzing sentiments in drug reviews, and it performed better than other models, but struggled with complex sentences and situations requiring background knowledge.
October 2023 in “Journal of the Endocrine Society” Machine learning identified three unique subtypes of androgen excess in women with PCOS, each with different metabolic risks.
3D models from confocal microscopy improve melanoma detection on sun-damaged skin.
6 citations
,
April 2019 in “Advances in Pharmacology and Pharmacy” Mimosa pudica extract may help create new sedative and anti-anxiety drugs.
38 citations
,
February 2006 in “British Journal of Clinical Pharmacology” The study found that combining different databases gives a better estimate of drug side effects in hospitals.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
January 2024 in “Wiadomości Lekarskie” pbn-STAC effectively finds strategies for cellular reprogramming using deep reinforcement learning.
November 2024 in “Rheumatology Advances in Practice” A thorough, team-based approach and clear communication improve outcomes in complex neuropsychiatric lupus cases.
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
10 citations
,
October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” Researchers created specific antibodies that detect a protein important in development and various conditions, and can be used for research and diagnosis.
2 citations
,
January 2016 in “Gynecological Endocrinology” A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
Smad4 is crucial for muscle repair, especially in aging, by promoting cell growth over differentiation.
SMAD4 is crucial for muscle repair in young adults but not in aged mice.
7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
5 citations
,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.