4 citations
,
February 2018 in “EMBO reports” This discussion highlights the potential of next-generation sequencing in forensic science for predicting phenotypic traits from DNA samples, but reports no new clinical results and underscores ongoing ethical and legal challenges.
231 citations
,
July 2008 in “Nutrition reviews” This review discusses environmental epigenomics and its potential impact on gene regulation and phenotypic outcomes, using the Avy mouse model to illustrate nutritional and environmental effects on the fetal epigenome without presenting new findings.
49 citations
,
January 2013 in “Dermatologic Therapy” This review discusses the varying neonatal presentations of Mendelian disorders of cornification (ichthyosis) based on phenotypic groups but reports no new clinical results; the authors suggest categorizing these presentations to guide diagnosis and treatment.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” This article reviews androgen insensitivity syndrome and highlights the factors contributing to phenotypic diversity in 46,XY patients with AR gene mutations, reporting no new clinical results.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
29 citations
,
March 2015 in “Clinical Endocrinology” This study found that women with polycystic ovary syndrome in the UK show significant differences in phenotypic and metabolic characteristics based on ethnicity, age, and obesity, influencing management strategies.
25 citations
,
May 2004 in “Prenatal Diagnosis” This study suggests that prenatal genetic diagnosis of MELAS syndrome using amniotic cells may not reliably predict fetal outcomes due to phenotypic diversity observed in siblings with similar levels of mutant mtDNA.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
7 citations
,
January 2008 in “Indian Journal of Dermatology” This review discusses the clinical manifestations and genetic basis of pigmentary mosaicism, highlighting its varied phenotypic expressions, but reports no new clinical results.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
August 2015 in “PubMed Central” This study suggests that epithelial-derived Pop-Up Keratinocytes (ePUKs) may be a promising cell source for regenerative medicine due to their specific phenotypic traits and their influence on wound healing.
14 citations
,
March 2022 in “Clinical Endocrinology” This review outlines a diagnostic approach for identifying non-PCOS pathology in women with androgen excess, emphasizing the importance of clinical history and biochemical phenotyping but reports no new clinical results.
June 2025 in “Albus Scientia” This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.
85 citations
,
June 2015 in “Scientific Reports” This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
29 citations
,
March 2023 in “European Journal of Human Genetics” This study identified four new genetic loci associated with acne risk and highlighted key pathways involved in its genetic predisposition, potentially explaining 9.4% of acne's phenotypic variance.
22 citations
,
October 2004 in “Journal of Investigative Dermatology” This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.
12 citations
,
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” This case report describes a 67-year-old woman with frontal fibrosing alopecia and her daughter with lichen planopilaris, noting identical HLA D types which suggest a phenotypical link between these conditions.
10 citations
,
February 2008 in “Photochemistry and photobiology” This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.
9 citations
,
April 2006 in “American Journal of Pathology” This study found that mutations in the Sgk3 gene cause defective hair follicle development and altered hair cycling in mice, with variable phenotypic outcomes depending on different dysfunction patterns of the SGK3 protein.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
3 citations
,
June 2019 in “Clinical nursing studies” In this study, the researchers reported that polycystic ovary syndrome negatively impacts the quality of life for women due to associated phenotypic characteristics like obesity and hirsutism.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
September 2025 in “Biological Procedures Online” This study presented a refined surgical protocol for a fetal mouse model that improves pregnancy success, reduces fetal loss, and allows for consistent phenotypic outcomes, enhancing research in scarless skin regeneration.
May 2025 in “Clinical Medicine Insights Case Reports” This case study reported on a 6-year-old boy with Kindler Syndrome born to consanguineous parents, featuring atypical symptoms like hyperpigmented macules and glucose intolerance, contributing to expanding insights into the condition's phenotypic diversity.
November 2024 in “DELOS Desarrollo Local Sostenible” In this study, researchers observed that Thunbergia grandiflora and Russelia equisetiformis exhibited mutual aid by altering their phenotypic characteristics to facilitate intertwining, suggesting a form of solidarity without apparent external threats.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
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.
2 citations
,
December 2024 In this study, the researchers observed that the evolution of Curtobacterium flaccumfaciens pv. flaccumfaciens, which causes tan spot in Australian mungbeans, is driven by clonal expansion from existing genetic variations, emphasizing the need for informed breeding strategies to manage resistance against this pathogen.
2 citations
,
May 2022 in “Ukraïnsʹkij žurnal medicini bìologìï ta sportu” This review discusses the interplay between genetics, skin microbiome, and inflammation in inflammatory skin diseases, focusing on how these factors may predict and influence seborrheic dermatitis, but reports no new results.