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.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
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.
5 citations
,
March 2021 in “F1000Research” This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.
2 citations
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September 2021 in “F1000Research” This study found that the ABCG2 (Q191K) polymorphism increases the risk of hyperuricemia and hypercholesterolemia specifically in young Mexican males.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
25 citations
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November 2014 in “British Journal of Dermatology” This study found various ABC transporters are transcribed in human hair follicles, suggesting their possible role in HF biology and potential for new therapeutic interventions.
13 citations
,
January 2021 in “Histochemistry and Cell Biology” In this study, human hair follicles showed varying expression of cholesterol transport proteins during the hair cycle, suggesting a potential role of cholesterol in hair growth and cycling.
6 citations
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March 2023 in “Journal of Ethnopharmacology” In this mouse study, researchers found that the Jieduquyuziyin prescription may lessen lupus-like symptoms and atherosclerosis by inhibiting TLR9/MyD88 signaling and promoting cholesterol efflux.
58 citations
,
June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
14 citations
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March 2015 in “Stem Cell Research & Therapy” This study indicates that ABCG2 expression identifies interfollicular keratinocyte progenitor cells in human epidermis and suggests it could help enrich these stem cells for research and treatment.
9 citations
,
June 2024 in “Cell Reports” This study found that hair follicles play a significant role in regulating skin barrier function, with disruptions in the upper hair follicle affecting the epidermis, influencing processes like desquamation and sebum release, and leading to cell movement into the epidermis.
7 citations
,
June 2024 in “iScience” This review highlights the significant role of androgens in the development and progression of cervical cancer, emphasizing the need for further research to understand their impact on the disease and improve prevention and treatment strategies in regions with limited HPV screening.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
3 citations
,
April 2012 in “Journal of the American Academy of Dermatology” Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
3 citations
,
April 2012 in “Cancer research” This study reports that side-population stem cells, distinct from hair follicle stem cells, may play a significant role in the malignant progression of squamous cell carcinomas in mice.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.
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
,
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.
1 citations
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January 2021 in “Skin appendage disorders” Chemotherapy patients don't all lose their hair due to factors like hair growth rates, age, genetics, and the type of drugs used.
September 2024 in “Current Oncology” This review discusses the common occurrence of docetaxel-induced hair loss in cancer patients, including permanent cases, and highlights current and experimental strategies like scalp cooling, minoxidil, and new clinical trials for managing and preventing this side effect.
July 2024 in “Journal of Investigative Dermatology” Hair follicles are crucial for maintaining skin barrier function.
This study found that Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.
October 2018 in “Deep Blue (University of Michigan)” This study found that matrix progenitor cell differentiation in hair growth has distinct early and late phases, and generated a mouse model to explore the hair follicle's role in harlequin ichthyosis.
January 2014 in “eScholarship (California Digital Library)” In this study, researchers observed that TLR3 and scavenger receptors play key roles in skin barrier repair following UVB damage, contributing to our understanding of cellular responses to skin injury.
5 citations
,
May 2020 in “Wiley Interdisciplinary Reviews Developmental Biology” This article reviews the mechanisms controlling long bone growth and suggests that new research approaches are needed to explore the role of extrinsic signals and tissue interactions.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
25 citations
,
July 2019 in “Experimental Dermatology” This review discusses the role of cholesterol homeostasis in hair follicle biology and its potential connections to various hair disorders, but it reports no new findings.
1 citations
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January 2009 in “Trepo - Institutional Repository of Tampere University” This study found that vitamin D regulates cholesterol metabolism and may influence prostate cancer development through mechanisms affecting prostate cell growth and sex hormone metabolism.