10 citations
,
September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
2 citations
,
March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
1 citations
,
January 2019 in “Elsevier eBooks” This review suggests that GABAergic neuroactive steroids modulated by alcohol could play a role in vulnerability to alcohol use disorders, providing a rationale for further therapeutic exploration.
October 2025 in “Animal Bioscience” This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.
January 2023 in “International Journal of Zoological Investigations” This study identified that certain genetic polymorphisms in IL-16 are associated with an increased risk of alopecia areata in an Iraqi population.
February 2022 in “International journal of KIU” This review discusses genetic susceptibility and dietary factors influencing COVID-19 severity and summarizes the genetic variants linked to infection outcomes, but it reports no new clinical results.
November 2008 in “Medical & surgical dermatology” This study reports that a prototype device may accurately measure changes in hair quantity, diameter, and density in patients with balding by assessing the cross-sectional area of hair bundles.
January 2023 in “European endocrinology” This review explores the association between alopecia and thyroid autoimmune disease, also highlighting a linked increased risk of thyroid cancer, but presents no new clinical findings.
176 citations
,
May 2020 in “Dermatologic Therapy” This review discusses the cutaneous symptoms associated with COVID-19 and their potential use in diagnosing and assessing the severity of the disease, but it reports no new clinical results.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
89 citations
,
October 1996 in “Dermatologic Clinics” This review discusses androgenetic alopecia and alopecia areata through a systems biology lens, emphasizing the role of multi-omics data integration to explore molecular mechanisms and potential therapeutic strategies, but offers no new clinical results.
27 citations
,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified somatostatin as a potential secretory factor contributing to the immune privilege of human hair follicles.
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.
20 citations
,
March 2022 in “The AMA Journal of Ethic” This article discusses how racial essentialism impacts health professions education by increasing prejudice and reducing empathy, and it suggests reforms to emphasize racism as a cause of health inequity, without presenting new research data.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
14 citations
,
February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
12 citations
,
August 2011 in “Asian-Australasian Journal of Animal Sciences” This study found that polymorphisms in the KAP8.1 gene were significantly associated with cashmere weight, length, and guard hair length in Chinese Inner Mongolian Cashmere goats, but not with fibre diameter.
12 citations
,
June 2006 in “Anais Brasileiros de Dermatologia” This study reports that scalp biopsies in white adults usually have 16.5 hair follicles, primarily in the anagen phase, with male samples showing fewer follicular units but more fibrous tracts in certain areas.
7 citations
,
October 2019 in “Clinical, Cosmetic and Investigational Dermatology” This study found that specific polymorphisms in the VDR gene, Taq1, and Cdx1, were significantly associated with increased risk of chronic telogen effluvium in women.
6 citations
,
January 2013 in “Genetics and Molecular Research” This study found that women with androgenetic alopecia demonstrated higher androgen receptor gene expression compared to controls, with a correlation found between higher AR expression and fewer CAG repeats in the AR gene.
5 citations
,
June 2015 in “Journal of Investigative Dermatology” This review discusses the use of the feather model to explore tumorigenesis, regeneration, and hormone-dependent growth, highlighting its potential for advancing biomedical research, but reports no novel experimental results.
4 citations
,
December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” This study suggests that SRD5A2 polymorphisms may increase the risk of acne in individuals with normal serum testosterone levels, particularly in the Chinese population.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
1 citations
,
June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” The review discusses the diverse roles of WNT10B in mammary gland development, immune function, and its potential implications in cancer and regenerative processes, with no new experimental results.
January 2017 in “Clinical & medical biochemistry” This study observed that Greek Caucasian women with PCOS had distinct serum hormone levels and a specific AKT2 gene SNP, which may play a role in the condition's characteristics.
113 citations
,
July 2020 in “Communications biology” This review suggests that understanding the biological and molecular reasons for more severe COVID-19 in men, particularly those at risk for prostate cancer, could improve management of these patients, but reports no new results.
July 2008 in “Journal of Intellectual Property Law & Practice” This court decision found that an Australian trader's use of an overseas competitor's trademark was not considered an infringement under Australian law.
34 citations
,
April 2014 in “Psychopharmacology” This review discusses the pharmacological properties and physiological regulation of neuroactive steroids, focusing on their varied responses to stress and ethanol in rats, mice, and humans, but it reports no new findings.