January 2026 in “Figshare” This table reports gene set enrichment analysis scores for hair follicle compartments across diseases and sampling methods, providing comparisons but no new experimental findings.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
October 2014 in “Journal of Minimally Invasive Gynecology” Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
45 citations
,
June 2012 in “JRSM Cardiovascular Disease” In this study, premature coronary artery disease in Indians under 40 was linked to factors like dyslipidemia, low HDL-C, smoking, and central obesity, with cutaneous markers significantly associated.
December 2022 in “Biomedicine” This study found that men with early onset androgenetic alopecia often have higher serum uric acid levels and an increased prevalence of hyperuricemia compared to controls.
5 citations
,
June 2016 in “Twin research and human genetics” In this study, heritability analyses in twins and siblings revealed that genetic factors predominantly influence hair diameter and curvature, with notable sex differences in their genetic impact.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
5 citations
,
November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
10 citations
,
June 2009 in “Acta Biochimica Polonica” This study found that splenic melanosis in C57BL/6 mice is associated with synchronized skin melanization during hair cycles, but decreases with age.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
January 2024 in “Medical mycology journal” This study reported three cases of tinea corporis caused by Microsporum canis in a household, linked to a domestic cat, where genetic analysis suggested a familial transmission route.
January 1961 in “The Journal of Anthropological Society of Nippon” This study examined hair from a mixed-heritage family and suggested that variations in pigment formation significantly influence hair form, including the occurrence of twist-knots.
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.
3 citations
,
February 2021 in “Pediatric rheumatology online journal” This case study described a 16-year-old girl with systemic lupus erythematosus and trisomy X, suggesting that these patients might be at higher risk for avascular necrosis and osteoporosis.
3 citations
,
January 2011 in “Intestinal Research” This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.
23 citations
,
April 1993 in “Gastroenterology” This study reported a case where cyclosporine treatment in a child led to remission of ulcerative colitis and regrowth of scalp and body hair, suggesting a possible connection between the disorders.
18 citations
,
December 2010 in “Transplantation Proceedings” This study reported that black hairy tongue can occur after allogeneic stem cell transplantation and may indicate cutaneous graft-versus-host disease, highlighting the need for histopathologic evaluation.
5 citations
,
March 2024 in “World Allergy Organization Journal” This study found a causal link between eight blood metabolites and allergic conjunctivitis, highlighting their potential role in predicting and preventing the condition.
January 2020 in “Sumatera Medical Journal” In this study, family history was identified as the most significant risk factor for premature hair graying among medical students at the University of Sumatera Utara.
1 citations
,
January 2019 in “British Poultry Science” This study found that specific genes related to vascular endothelial growth factors are critical for feather maturity in certain chicken breeds, identifying key genetic markers that could enhance breeding efficiency.
21 citations
,
March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
5 citations
,
January 2020 in “Wiadomości lekarskie (Warsaw Poland)” This study found that patients with GERD and UCTD have significantly more frequent phenotypic and visceral markers than those with GERD alone, which should inform early diagnostic and treatment strategies.
The study found that conditioned medium from placental cells and sub-cultured placental tissue promoted angiogenesis in HUVECs, with early pregnancy cells showing more significant effects than those from full-term pregnancy.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
October 2021 in “Journal of Mind and Medical Sciences” This report describes a unique anatomical case featuring a detailed formation of a periaortic venous ring in an organic sample.
April 2023 in “Journal of Investigative Dermatology”