286 citations
,
January 2009 in “Human Reproduction Update” This study reports that NIH PCOS is linked to more severe metabolic issues, including higher obesity and insulin resistance, compared to non-NIH PCOS phenotypes.
767 citations
,
September 2016 in “Human Reproduction” This review analyzes the reported prevalence of polycystic ovary syndrome (PCOS) based on different diagnostic criteria but does not provide new clinical results.
24 citations
,
April 2021 in “BMC women's health” This study found that women with PCOS and high BMI exhibited significantly increased hair growth compared to non-PCOS women, suggesting an additive effect of body weight on this phenotype in PCOS.
9 citations
,
March 2022 in “Frontiers in Endocrinology” This study found that PCOS is common among Iranian women, with phenotypes involving hyperandrogenism exhibiting worse lipid profiles and higher rates of metabolic syndrome compared to healthy women.
1 citations
,
July 2025 in “BMC Medicine” The authors concluded that establishing and standardizing methods for data collection are crucial to improving PCOS diagnosis and research due to challenges observed in data harmonization across diverse international cohorts.
May 2026 in “International Journal of Dermatology” This study investigated a unique frontal fibrosing alopecia-like presentation of alopecia areata, finding that patients experienced an insidious, chronic course with limited scalp hair regrowth, and showed a lower response to systemic corticosteroids compared to patchy alopecia areata.
November 2023 in “Journal of Investigative Dermatology” Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
1 citations
,
June 2021 in “Journal of gynecology and womens health” This study found that the prevalence of polycystic ovarian syndrome among women of reproductive age in urban and rural areas of Hyderabad, Telangana, is between 6.5% and 6.8%.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
33 citations
,
May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
11 citations
,
January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
25 citations
,
November 2020 in “Cell Reports Medicine” Developing human skin has immune cells with memory-like features.
7 citations
,
October 2018 in “BMC genomics” This study reveals that β-catenin and retinoic acid are key regulators in the gene networks controlling the fate of skin appendages, such as scales and feathers.
April 2023 in “Elsevier eBooks” This review discusses the various phenotypes and systemic manifestations of polycystic ovary syndrome, including metabolic, reproductive, and psychological aspects, but reports no new clinical results.
July 2020 in “RePub (Erasmus University, Rotterdam)” This thesis analyzed four skin aging features and their relationships with lifestyle, physiological factors, and genetics.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.
162 citations
,
January 2015 in “Trends in Endocrinology and Metabolism” This review discusses how women with PCOS have an increased risk of insulin resistance and cardiometabolic features regardless of body fat, and calls for targeted prevention and management strategies.
9 citations
,
October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.
November 2025 in “Basic and Clinical Andrology” This systematic review and meta-analysis found that male first-degree relatives of women with PCOS have increased rates of metabolic issues, hormonal imbalances, and androgenic features compared to controls, suggesting a male equivalent of PCOS.
42 citations
,
September 2012 in “PLoS ONE” In this study, bezafibrate treatment improved certain aging-like features in a mouse model with mitochondrial dysfunction, but did not enhance muscle function or lifespan.
55 citations
,
April 2008 in “Clinical Genetics” This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
7 citations
,
October 2012 in “S. Karger AG eBooks” This review discusses the similarities in clinical, endocrine, and ultrasonographic features between PCOS and other disorders with excessive androgen secretion, emphasizing the importance of accurate diagnosis but reports no new clinical results.
March 2020 in “UTUPub (University of Turku)” This study found that self-reported androgen-driven phenotypes, like balding and finger length ratios, were not associated with cancer aggressiveness or biochemical recurrence in prostate cancer after prostatectomy.
1 citations
,
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified unique prenatal lymphocyte features in human fetal skin, including proliferative naive T cells and memory-like T cells, which may influence antigen and allergen responses in utero and infancy.
In this study, researchers observed that atopic dermatitis may alter the appearance of allergic patch test reactions, demonstrating specific patterns like perifollicular erythema and yellowish areas that could aid in interpreting patch tests using dermoscopy, particularly in ambiguous cases.