January 2012 in “The Journal of Qazvin University of Medical Sciences” This study examined the prevalence of polycystic ovary syndrome phenotypes among adolescent females in Shiraz, finding a notable presence of different symptoms and emphasizing the need for early detection.
66 citations
,
April 1989 in “Alcoholism Clinical and Experimental Research” This study found that the ethanol patch test effectively indicates the ALDH phenotype in healthy Japanese individuals, suggesting its usefulness for future research.
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.
51 citations
,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that Wnt secretion is important for maintaining skin homeostasis in mice, as Evi-deficient mice developed psoriasis-like skin lesions and had an imbalance in immune cell populations.
42 citations
,
December 2016 in “Cell Death & Differentiation” This study found that transient mtDNA double strand breaks in mice accelerated aging in certain tissues through increased reactive oxygen species, independent of p21/p53 pathway mediation.
17 citations
,
February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
15 citations
,
April 2022 in “Ginekologia Polska” Higher thyroid hormone levels may be linked to certain types of polycystic ovary syndrome.
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.
2 citations
,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, overexpression of miR-29 in mice led to aging-related phenotypes and early lethality, demonstrating its significant role in driving aging processes.
2 citations
,
November 2018 in “International journal of gynaecology and obstetrics” In this retrospective cohort study, no significant differences were observed in assisted reproductive outcomes among different PCOS phenotypes undergoing frozen-thawed embryo transfer.
This study identified that manifestations of Long COVID can be detected through routine symptoms and diagnoses in electronic health records following COVID-19 admissions, as compared to non-COVID hospitalizations.
January 2025 in “Diagnostics” In this prospective case-control study, researchers found that women with any phenotype of polycystic ovary syndrome exhibited increased retinal nerve fiber layer and choroidal thickness compared to healthy controls, with changes correlated to body mass index.
87 citations
,
January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
13 citations
,
March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
8 citations
,
April 2016 in “Experimental Dermatology” The researchers reported that in mice, the type of tumor suppressor deleted along with oncogenic Kras activation in HFSCs influenced the specific squamous cell carcinoma phenotype that developed.
5 citations
,
October 2022 in “Frontiers in Genetics” This study presents the first documented case of a woman with Alström syndrome successfully conceiving and giving birth, highlighting the importance of managing systemic comorbidities during pregnancy.
4 citations
,
June 2024 in “Animals” This review examines the genetic factors influencing coat color in horses and donkeys, highlighting key genes like MC1R, TYR, MITF, ASIP, and KIT, and discusses implications for selective breeding and the relationship between coat color and specific equine diseases.
3 citations
,
April 2021 in “Cureus” In this study, 62.7% of patients with alopecia areata had deficient vitamin D levels, yet there was no significant link between these levels and specific alopecia areata patterns.
1 citations
,
July 2025 in “Cancer Medicine” This study observed that colorectal cancer tumoroids adapted to an environment without a matrix by developing disordered self-assembly, but their tumor-specific phenotypes and drug sensitivity remained unchanged.
145 citations
,
March 2010 in “Fertility and Sterility” This study reported that ovulatory PCOS is a milder form of the condition compared to classic PCOS phenotypes, which share similar clinical and hormone characteristics.
25 citations
,
September 1995 in “Biochemistry and Cell Biology” This study found that high levels of human cytokeratin 16 expression in transgenic mice lead to skin lesions and altered keratinocyte structure, suggesting potential implications for human skin disorders and wound healing.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
14 citations
,
August 2015 in “Endocrinology” This study describes the development of a monoclonal antibody, 005-C04, which blocks PRLR-mediated signaling, suggesting its potential for furthering understanding of PRLR's role in health and disease.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
2 citations
,
August 2022 in “Middle East Fertility Society Journal” This study found that combining fructose and DHT in rats successfully mimicked the clinical phenotypes of non-lean PCOS, providing a novel rodent model for this condition.
1 citations
,
January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
1 citations
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August 2013 in “The Journal of Cell Biology” This study found that Wnt secretion is important for skin homeostasis in mice, as Evi-deficient mice developed skin lesions resembling psoriasis and showed immune cell imbalance.
January 2016 in “Journal of SAFOG” This study observed that androgenic hormone levels were higher in high school girls with PCOS phenotypes accompanied by menstrual disorders, particularly oligomenorrhea.
54 citations
,
May 2015 in “Endocrinology” In this study, manipulation of the enzyme 5α-reductase type 2 in human hepatocytes altered lipogenesis, suggesting clinical implications for patients using 5α-reductase inhibitors by affecting glucocorticoid action on hepatic lipid metabolism.
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.