24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
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.
1 citations
,
September 2024 in “arXiv (Cornell University)” This study reviews methods to ensure the reliability of machine learning models in medical imaging, focusing on bias detection, data drift assessment, and accuracy estimation without ground truth labels to enhance integration into clinical settings.
January 2026 in “Psychoneuroendocrinology” Self-collected hair samples can measure stress but may need adjustments for accuracy.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
867 citations
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November 2020 in “Nature Communications” This review discusses the challenges of interpreting observational studies on COVID-19 due to biases from non-representative samples, such as collider bias, and suggests better sampling methods to mitigate these issues.
197 citations
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June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
This article reviews challenges in interpreting observational COVID-19 data due to biases from non-random sampling, discussing strategies to address these biases but reporting no new results.
31 citations
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August 2020 in “EClinicalMedicine” This study found that male cancer patients had a higher risk of severe illness and death from COVID-19 compared to female patients.
27 citations
,
August 2015 in “Journal of Investigative Dermatology” This study found that sex bias exists in dermatological research, with 60% of articles not reporting the sex of cells or animals and a disproportionate use of male cells and animals when known.
2 citations
,
June 2023 in “International Journal of Women’s Dermatology” This study investigated price differences and found that haircare products targeting coily/curly hair are more expensive than those for straight hair types, with the authors suggesting that pricing policies should be more equitable to ensure affordable access for all individuals.
March 2026 in “Preprints.org” In this study, plerixafor was found to enhance melanogenesis and promote repigmentation by engaging a β-arrestin–β-catenin–MITF signaling axis in melanocytes, and showed effectiveness in restoring depigmentation in a murine model without causing systemic toxicity.
September 2023 in “Journal of the American Academy of Dermatology” This study found that hair care products designed for coily/curly hair are significantly more expensive than those for straight hair, based on pricing data from Amazon.com. This indicates a need for equitable pricing to ensure access to affordable hair care for all hair types.
June 2023 in “Journal of Drugs in Dermatology” This study highlights the challenges in diagnosing alopecia in Black patients, emphasizing the importance of a comprehensive approach involving clinical examination, trichoscopy, and biopsy to improve diagnostic accuracy.
65 citations
,
May 2001 in “Journal of Analytical Toxicology” This study found that amphetamine was preferentially incorporated into black hair compared to white hair in Long-Evans rats, suggesting a role for drug basicity in hair color-based drug incorporation.
11 citations
,
May 2021 in “Journal of Medical Virology” This review discusses sex differences in immune response to respiratory viral infections, including SARS-CoV-2, and highlights that hormones like estrogen may provide females with better protection, but it reports no new results.
6 citations
,
August 2024 in “Advanced Science” This study presents a Cu-catalyzed atroposelective method achieving high stereoselectivity for synthesizing chiral biaryl N-oxides, with product 3e showing promising therapeutic efficacy against triple-negative breast cancer in cell lines MDA-MB-231 and MDA-MB-468.
3 citations
,
April 2025 in “Journal of Clinical Epidemiology” This study found that non-blinded assessors in randomized clinical trials exaggerated the effects of experimental interventions by about 29% compared to blinded assessors, indicating a significant potential for observer bias in treatment evaluations.
1 citations
,
September 2025 in “PLOS Digital Health” This study found that all four evaluated large language models generated a significant proportion of inappropriate responses when prompted with or without LGBTQIA+ identity terms, with more severe bias observed in prompts mentioning LGBTQIA+ identities.
This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.
1 citations
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April 2008 in “Progrès en Urologie” Systematic end-of-trial biopsies are the most reliable way to assess outcomes.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
7 citations
,
August 2017 in “European journal of endocrinology” This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.
February 2025 in “Journal of Caring Sciences” This article emphasizes that the CONSORT statement is a guideline for reporting randomized controlled trials, not a tool for assessing risk of bias.
April 2018 in “Journal of Investigative Dermatology” This study reports that in aged mice, hair follicle dermal stem cells exhibit diminished self-renewal and preferential differentiation into dermal sheath cells, contributing to age-related hair loss.
July 2008 in “International journal of psychophysiology” This retrospective study found that cyproterone acetate, both alone and with estrogens, was safe, well tolerated, and induced modest feminizing effects in late-pubertal transgender female adolescents.
September 2023 in “British Journal of Dermatology” This study found that WNT10A variants are associated with short anagen hair in children and may overlap genetically with male pattern hair loss.
24 citations
,
January 2018 in “Systematic Reviews” This study found that the current approval processes by major regulators like the EMA and FDA for HPV vaccines may rely on only half of the available trial data.
23 citations
,
August 2017 in “Scientific Reports” Darker hair may lead to higher cortisol readings, suggesting a need to adjust for hair color in studies.