15 citations
,
August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
12 citations
,
September 2024 in “MedComm” This review reports on the principles, applications, and future potential of bioprinting technology in fields like tissue engineering and organ regeneration, highlighting recent advancements and identifying ongoing challenges and future directions that require collaborative efforts to fully realize the technology's capabilities.
5 citations
,
February 2021 in “JCPSP. Journal of the College of Physicians & Surgeons Pakistan” This study investigated the relationship between early-onset androgenetic alopecia and metabolic syndrome in younger males, but the abstract does not report specific results.
3 citations
,
April 2020 in “Clinical endocrinology and metabolism journal” This review discusses imaging's role in the diagnosis and management of congenital adrenal hyperplasia and reports no new clinical results; it suggests a potential presentation route via incidental radiologic findings.
August 2026 in “BMC Nephrology” In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.
March 2026 in “Pigment Cell & Melanoma Research” At a workshop highlighted during the 2025 ESPCR meeting, researchers discussed the challenges and variability in culturing skin-related cells, identifying key factors such as media composition and species differences that affect experimental reproducibility, and emphasized the importance of transparent practices to advance pigment cell research.
January 2025 in “The Journal of Clinical Endocrinology & Metabolism” This article discusses the complex aetiology, diagnostic criteria, and challenges in diagnosing polycystic ovary syndrome, but does not report new clinical findings.
This research investigated the role of EphA1 in embryonic and adult tissues, generating mouse models suggesting potential links to skin and colon cancer, sepsis, and post-traumatic injury.
118 citations
,
April 2020 in “Stem Cell Research & Therapy” This study found that adipose-derived mesenchymal stromal cell secretome, particularly when preconditioned with IFNγ, significantly influences cell motility and anti-inflammatory responses, enhancing its potential as a regenerative therapy.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
24 citations
,
March 2024 in “Small Science” This review discusses the potential applications and advantages of encapsulating single cells for use in therapeutics and diagnostics, while also evaluating various methods for effectively creating and sorting single-cell units despite challenges in production and cost.
15 citations
,
November 2024 in “Pharmaceutics” This review discusses how recent advancements in computational and lab-based methods have enhanced peptide drug discovery, noting the efficiency and cost benefits over traditional approaches and the potential for targeting difficult protein interactions, including protein degradation using proteolysis-targeting chimeras.
14 citations
,
August 2021 in “Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy” This research discusses the potential antitumor effects of metformin, a common diabetes medication, noting its controversial influence on different malignant tumors and its uncertain mechanisms. Understanding these effects on tumors may aid in the development of new cancer treatments.
12 citations
,
February 2023 in “Journal of Personalized Medicine” This review discusses the complex interplay of genetic and environmental factors in Type 1 Diabetes Mellitus and its frequent association with other autoimmune conditions, focusing on personalized medicine to potentially improve patient care.
11 citations
,
June 2019 in “International journal of gynaecology and obstetrics” This study found that among women with PCOS in Haryana, a larger proportion lived in urban areas, suggesting lifestyle and dietary factors may influence prevalence.
6 citations
,
August 2024 in “BMC Ophthalmology” This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.
1 citations
,
October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
1 citations
,
April 2022 in “Annals Academy of Medicine Singapore” This review covers the clinical features and heterogeneity of polycystic ovary syndrome and reports no new findings, emphasizing the need for further research on its complex traits and interactions.
1 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
This study found that a combination of four transcription factors can transform mouse fibroblasts into cells resembling inner ear hair cells, potentially aiding research into hearing loss treatments.
June 2026 in “Journal of Integrated Science and Technology” This review discusses the proposed shift from PCOS to PMOS, emphasizing a comprehensive approach to diagnosis and management, but reports no new clinical results.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
January 2025 in “ACS Applied Materials & Interfaces” In this study, a nanoparticle system codelivering diphenylcyclopropenone and rapamycin successfully induced immune tolerance and promoted hair regrowth in a mouse model of alopecia areata, offering a promising new therapeutic strategy for this autoimmune condition.
July 2024 in “Clinical Cosmetic and Investigational Dermatology” Certain immune cells are linked to non-scarring hair loss, suggesting potential for immune-targeted treatments.
September 2019 in “Journal of Investigative Dermatology” This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.
94 citations
,
December 2018 in “Dentistry Journal” This review article explores the potential of various mesenchymal stem cell populations derived from oral tissues, such as DPSCs and hPCy-MSCs, in bone tissue engineering and regeneration, detailing their high plasticity and clinical applications in dental procedures.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
55 citations
,
December 2021 in “BMC Veterinary Research” This study identified several candidate genes related to wool production traits and adaptation to hot, arid environments in Iranian sheep, highlighting potential targets for future inbreeding programs.
42 citations
,
August 2022 in “Diagnostics” This review examines existing evidence on PCOS diagnostic criteria for adolescents and underscores the need for accurate definitions, while highlighting limited research, especially regarding adolescents at risk of PCOS.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.