October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
24 citations
,
June 2011 in “International Journal of Dermatology” This review summarizes physiologic skin changes during pregnancy and specific pregnancy-related dermatoses but reports no new clinical results.
September 2021 in “Physiology News” This abstract contains only graphic design specifications and reports no new research findings.
10 citations
,
March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
1 citations
,
May 2023 in “Journal of molecular evolution” This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.
1 citations
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December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study investigated pangolin skin genetics, finding that while sweat gland-related genes are not inactivated, several genes related to sebaceous gland function are, which highlights complex evolutionary adaptations in mammalian skin.
106 citations
,
March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
20 citations
,
January 2017 in “Scientific reports” This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.
12 citations
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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.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
29 citations
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May 2018 in “Clinical Endocrinology” This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
5 citations
,
September 2016 in “Security science and technology” DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
39 citations
,
April 2020 in “Clinical, Cosmetic and Investigational Dermatology” This review discusses the unique characteristics and disorders of Asian hair, emphasizing the need for more comprehensive studies in this area.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
136 citations
,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.
2 citations
,
February 2024 in “Medicine” In this study, researchers found that the rs3118470 mutation in the IL2RA gene significantly increases the risk of developing alopecia areata, and they emphasize the need for future research with larger, more diverse populations to validate these results.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.
July 2023 in “New phytologist” This research identified a genetic mutation in Brachypodium distachyon that initially allows root hair initiation but fails to elongate them, while also affecting root growth and nitrate sensitivity; the mutation is linked to a previously uncharacterized cyclin-dependent kinase-like gene.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
13 citations
,
September 2022 in “Biomolecules” This study found that specific gene upregulations and mutations in hidradenitis suppurativa skin support the role of inflammation, altered epithelial differentiation, and metabolism dysregulation in the disease's pathogenesis.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
2 citations
,
August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
This study suggests that specific genetic changes, including mutations in protein-coding genes and noncoding regions, have contributed to the evolution of hairlessness in multiple mammalian species.
11 citations
,
July 2014 in “Journal of The Royal Society Interface” This study demonstrates that modeling clone size independently of time offers analytical advantages for understanding cell distribution and mutation frequency in epithelial progenitors, extending applications beyond neutral models.
1 citations
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February 2025 in “Medicina” This study examined genetic risk factors for alopecia areata in the Jordanian population but found no significant association between the 21 targeted risk loci and the condition, emphasizing variability in genetic predisposition across ethnic groups and potential non-genetic triggers.
9 citations
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September 2023 in “Viruses” In this study, researchers in Southeastern Wisconsin characterized circulating SARS-CoV-2 lineages, notably identifying the dominance of Omicron variants, including sublineages XBB.1.5, XBB.1.16, and XBB.1.9.1, which exhibit mutations aiding viral transmission and immune evasion. This genetic analysis supports public health efforts in monitoring evolving virus strains.
37 citations
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November 2017 in “Medical Sciences” This study suggests that melanoma tumor cells exhibit intrinsic plasticity, challenging the applicability of the cancer stem cell model to this malignancy.