September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
2 citations
,
July 2022 in “Indian Journal of Dermatology Venereology and Leprology” This study found that patients with premature greying of hair had significant abnormalities in cardiovascular risk markers, including elevated IL-6 levels, compared to healthy controls.
51 citations
,
January 2007 in “Animal Genetics” This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.
5 citations
,
December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
1 citations
,
August 2024 in “Skin Research and Technology” This study found no significant causal relationship between androgenetic alopecia and serum uric acid levels using various Mendelian randomization methods, suggesting the need for future research with larger cohorts and advanced methods to further explore this potential association.
2 citations
,
March 2017 in “Sultan Qaboos University medical journal” This case report describes a six-month-old infant with focal scalp hair heterochromia and no detectable underlying abnormalities, which was still present at a one-year follow-up.
3 citations
,
December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
This study assessed genetic variability and combining ability in winter squash for various traits related to yield and plant architecture, finding significant variability in eight traits and highlighting specific parents and hybrid combinations as promising for breeding programs focused on oil production.
3 citations
,
October 2009 in “Dermatology” This discussion highlights inflammation's potential role in hair loss symptoms like androgenic alopecia but reports no new research findings.
November 2022 in “Journal of Investigative Dermatology” This study found that dysregulation of the DNA damage response in stem cells is a common factor of aging, affecting tissues like the skin, brain, kidneys, and intestine.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
39 citations
,
July 1997 in “American Journal of Medical Genetics” This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.
24 citations
,
March 2010 in “Journal of Cellular Biochemistry” This study found that an inter-hair-follicle blood vessel network, originating from ND-GFP-expressing stem cells, contributes to angiogenesis in skin transplants and wound healing in ND-GFP transgenic mice.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
53 citations
,
May 1988 in “Journal of Molecular Evolution” March 2023 in “Institutional Repositories DataBase (IRDB)”
July 2026 in “Annals of Medicine and Surgery” This study found that arthritis and mucocutaneous features are common at early stages of SLE, while sicca, vasculitis, and hematologic manifestations tend to increase as the disease progresses.
15 citations
,
June 1993 in “Archives of Dermatology” This letter discusses the causes of gray hair, noting both genetic factors and potential associations with other conditions or certain medications, but reports no new findings.
1 citations
,
October 2023 in “Frontiers in Oncology” This study presented cases where potentially significant germline variants were unexpectedly found during genomic profiling for myeloid malignancies, discussing the challenges in genetic counseling and management, especially when variants don't match the patient's condition.
39 citations
,
June 1982 in “The BMJ” Blood tests confirmed a baby in the womb had a CMV infection.
2 citations
,
May 2017 in “The Journal of Dermatology” This case report describes a Japanese bone marrow transplant recipient who developed a high-risk cutaneous squamous cell carcinoma on the scalp, potentially linked to long-term voriconazole use.
December 2024 in “NeoReviews” This case study highlights that maternal autoimmune diseases like Sjogren syndrome may lead to congenital heart block in neonates, necessitating thorough evaluation of maternal medical history when such conditions present postnatally.
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, Clitoria ternatea (Sangu Poo) was noted for its potential roles in health and skincare, with lab tests showing antioxidant, antimicrobial, liver-protective, and cancer-related activities; however, human trial evidence is lacking, impacting consistent quality and progress.
September 2025 in “Frontiers in Genetics” This study developed a non-invasive, partially automated protocol for extracting high-quality DNA from hair follicles of marmosets, significantly reducing chimerism rates compared to blood, and proving reliable for whole genome sequencing in low-input DNA scenarios.
March 2018 in “Suez Canal University Medical Journal” In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
28 citations
,
February 2021 in “Stem Cell Research & Therapy” This study found that conditioned medium from placental cells and sub-cultured placental tissue promoted angiogenesis in human umbilical vein endothelial cells in vitro, with early pregnancy cells having a more significant effect.