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.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
140 citations
,
March 2013 in “The journal of immunology/The Journal of immunology” This study found that IL-7 is crucial for the survival of memory regulatory T cells in the skin of mice, whereas IL-2 is essential for their initial generation but not for their maintenance.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In a keratinocyte-specific knockout mouse model, this study found that deleting GRK2 disrupted hair follicle homeostasis, causing cyst-like structures, abnormal growth patterns, and eventual hair loss, suggesting potential links to immune-mediated alopecias.
17 citations
,
May 2021 in “Journal of Assisted Reproduction and Genetics” This study reviews the mechanisms by which SARS-CoV-2 may impact male fertility, noting potential disruptions in spermatogenesis and hormone secretion, and underscores the need for follow-up in recovered men.
182 citations
,
August 2016 in “Development” This review discusses the roles and mechanisms of chromatin remodelers and their subunits in mammalian development, but reports no new experimental results.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.
11 citations
,
January 2012 in “Journal of cell science” This study demonstrates that Rac1 activity is essential for normal hair follicle formation but influences hair structure and pigmentation, in terminal differentiation, through alterations in hair shaft, cuticle, and pigmentation organization.
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.
April 2026 in “Dermatology and Therapy” This review discusses the various skin changes, pregnancy-specific dermatoses, and medication management related to dermatologic health during pregnancy, aiming to provide clinicians with an evidence-based guide for diagnosis and treatment.
November 2024 in “medRxiv (Cold Spring Harbor Laboratory)” Genetic factors affecting skin health and body weight may increase the risk of dermatophytosis.
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that back skin mesenchyme from mouse embryos can induce hair follicle formation even before dermal condensate formation, but R-spondin-1 alone or with a Bmp receptor inhibitor was not sufficient for hair follicle induction.
February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that distinct spiny hair morphologies in rodents arose independently multiple times but did not link the Ecdysoplasin A receptor gene mutation that affects human hair to these variations.
179 citations
,
September 1998 in “BMJ” This article reviews the pathogenesis, genetic basis, and recent treatment breakthroughs for androgenetic alopecia but reports no new clinical findings.
100 citations
,
June 2002 in “Diabetologia” This study found that parents of women with PCOS have a higher prevalence of insulin resistance and Type II diabetes than parents of healthy women.
This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.
January 2022 in “Revista Dermatológica Centro Uraga” This article reviews two cases of monilethrix in siblings, detailing their clinical and dermatoscopic characteristics, but reports no new findings.
359 citations
,
September 2017 in “European Journal of Epidemiology” This article discusses the rationale, design, and significant findings of the long-running Rotterdam Study but reports no new clinical results.
247 citations
,
August 2011 in “European Journal of Epidemiology” This article outlines the rationale, design, major findings, and updated objectives of the ongoing Rotterdam Study, without presenting new research data.
57 citations
,
January 2014 in “Cold Spring Harbor Perspectives in Medicine” Skin stem cells maintain and repair the outer layer of skin, with some types being essential for healing wounds.
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.
February 2026 in “Small Ruminant Research” This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.
211 citations
,
April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
96 citations
,
July 2014 in “Cold Spring Harbor Perspectives in Medicine” This review discusses various stem cell compartments in adult murine and human epidermis, examining their expressed markers and characterization assays, and reports no new experimental results.
82 citations
,
March 2012 in “Development” This study found that deleting the miRNA processing enzymes Drosha and Dicer from mouse skin epithelial cells disrupted normal hair follicle development and maintenance, leading to follicular degradation and stem cell loss during the growth phase.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
5 citations
,
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Piezo2 channels are primarily located on sensory axon membranes in mechanosensory end organs, supporting a model where mechanical stimuli activate Aβ RA-LTMR neurons via axon protrusions.
June 2026 in “Journal of Cutaneous and Aesthetic Surgery” This study explored professionals' insights on eyebrow transplantation, finding that while the procedure can enhance appearance and confidence, it also carries risks such as potential complications and costs, emphasizing the need for thorough pre-operative consultations.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.