710 citations
,
May 2023 in “European Urology” This study highlights that improved diagnostic techniques for prostate cancer could decrease the number of men needing diagnosis and treatment to save one life and identifies avoidable risk factors, such as smoking, diet, and occupation, that may influence prostate cancer risk.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
15 citations
,
July 2024 in “Current Issues in Molecular Biology” This narrative review explores the molecular mechanisms driving skin development and their role in skin diseases, emphasizing how disruptions in these pathways can lead to conditions like congenital disorders and cancers, potentially guiding new targeted therapies.
April 2019 in “Journal of the Endocrine Society” This case report documents successful virilization, including penile length increase, in a boy with partial androgen insensitivity syndrome using high-dose testosterone combined with anastrozole.
3 citations
,
June 2017 in “Reproductive biomedicine online” In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.
37 citations
,
August 2024 in “Current Issues in Molecular Biology” This review summarizes recent findings on keratins 6, 16, and 17, highlighting their role in keratinocyte behavior and nuclear functions, and discusses their potential as biomarkers for various skin pathologies, including damage, inflammation, and cancer, rather than in healthy skin.
21 citations
,
January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
25 citations
,
June 2019 in “Endocrine Related Cancer” This review discusses the structure and function of steroid nuclear receptors, particularly focusing on androgen receptor dysregulation in prostate cancer and androgen insensitivity syndromes, without reporting new experimental results.
66 citations
,
January 2001 in “Vitamins and hormones” This chapter reviews the role of androgen receptors in mediating the actions of androgens in specific tissues and provides no new experimental findings.
23 citations
,
May 2019 in “Expert Opinion on Therapeutic Patents” This review discusses AR-modulating agents developed between 2012 and 2018, highlighting challenges with ligand-binding domain antagonists and proposing nonconventional approaches targeting other domains as promising strategies.
13 citations
,
June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
November 2007 in “Data Archiving and Networked Services (DANS)” This thesis reviews the molecular mechanisms of androgen receptor functions, including receptor structure and interaction with other proteins, and reports no new experimental findings.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
December 2004 in “SUNScholar (Stellenbosch University)” This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.
1 citations
,
February 2009 in “Clinical Genetics” This study identified new genetic variants on chromosome 20p11 associated with male pattern baldness.
17 citations
,
September 2019 in “Journal of Cell Biology” This study found that despite carrying an activating Hras mutation, hair follicle stem cells integrate into normal skin without causing tumors, unlike similar mutations in the epidermis, suggesting unique tumor-suppressing mechanisms in hair follicles.
2 citations
,
January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
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.
30 citations
,
January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
71 citations
,
February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
175 citations
,
August 1997 in “Nature Genetics”
7 citations
,
May 2005 in “Experimental Dermatology” This study reports that two mouse models of scarring alopecia exhibit similar patterns of hair loss progression despite histological differences in inflammatory cell localization and MHC class I expression.
23 citations
,
February 2015 in “The American journal of pathology” This study found that the absence of sebaceous glands may be an early factor in the development of keratosis pilaris, leading to hair shaft and skin barrier abnormalities, independent of filaggrin mutations.
26 citations
,
July 2012 in “Biochimica et Biophysica Acta (BBA) - General Subjects” This review discusses the identification and roles of different epidermal stem cell types in skin homeostasis and repair, and reports no new experimental findings.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
47 citations
,
December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.