125 citations
,
August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
April 2019 in “Journal of the Endocrine Society” This study found that androgen-regulated genes in hidradenitis suppurativa skin lesions are strongly linked to innate immunity pathways, indicating a potential connection between androgen signaling and inflammation in this condition.
120 citations
,
June 2008 in “American Journal of Epidemiology” This study reported a 6.3% prevalence of PCOS among women in a Sri Lankan community, with most cases presenting as oligo/amenorrhea and polycystic ovaries.
78 citations
,
August 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.
75 citations
,
April 2000 in “Developmental Dynamics” This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.
54 citations
,
May 2001 in “Journal of Investigative Dermatology” This study suggests that increased putrescine levels may disrupt normal hair follicle development in transgenic mice, leading to hair loss and altered skin structure, yet these mice appear more resistant to skin tumorigenesis.
23 citations
,
March 2017 in “JAAD case reports” This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
16 citations
,
April 2018 in “Animal Genetics” This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.
15 citations
,
February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
13 citations
,
August 2024 in “iScience” This study found that 3D spheroid culture reprogrammed mesenchymal stem cells into a uniform immunosuppressive phenotype, suggesting potential therapeutic applications for inflammatory diseases like psoriasis.
13 citations
,
June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
7 citations
,
August 2019 in “Endokrynologia Polska” This study reported that women with metabolic PCOS phenotype have free androgen index values approximately twice as high as those with the reproductive phenotype.
5 citations
,
August 1983 in “PubMed” This study found that isozyme profiles in polyoma virus-induced tumors were consistent and distinctive for each tumor type, except for salivary and mammary tumors which shared a profile.
3 citations
,
March 2024 in “Journal of Dermatological Treatment” Baricitinib can lead to hair regrowth in alopecia areata but may also cause relapses.
1 citations
,
October 2024 in “BMC Infectious Diseases” This study found that post-COVID-19 syndrome incidence varied significantly by gender and identified ALP levels as a potential biomarker for its detection, challenging current diagnostic criteria.
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.
April 2010 in “The journal of immunology/The Journal of immunology” This study found that deleting the FoxN1 gene in mice disrupted the 3D thymic epithelial structure and led to 2D epithelial cysts, revealing its crucial role in thymus organization but not causing athymia.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that targeting skin-infiltrated memory phenotype T cells could offer a new therapeutic approach to manage lymphopenia-related diseases like graft-versus-host disease and immune reconstitution inflammatory syndrome.
October 2021 in “Journal of Investigative Dermatology” In this study, the researchers found that scalp hair follicles affected by female pattern hair loss are poorly vascularized, likely affecting nutrient delivery, but capable of nutrient uptake when supplemented.
June 2026 in “EP Europace” This study found that minoxidil and finasteride, commonly used for androgenetic alopecia, were associated with different arrhythmia profiles in adverse event reports: minoxidil predominantly with supraventricular arrhythmias and finasteride primarily with ventricular arrhythmias in men.
69 citations
,
January 2005 in “The Journals of Gerontology Series A” This study suggests that short telomeres may produce similar aging-related symptoms across different segmental progeroid syndromes, offering potential insights into normative aging processes.
7 citations
,
March 1993 in “International Journal of Oncology” This study found that the keratin expression in basal cell carcinoma resembles that of the pilosebaceous apparatus, with uniform presence of certain keratins in all cases.
January 1990 in “Advances in forensic haemogenetics” This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
98 citations
,
March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
12 citations
,
February 2017 in “International journal of developmental neuroscience” This study observed that reduced in utero exposure to the neurosteroid allopregnanolone increased anxiety-like behavior in female guinea pigs during the juvenile period without affecting long-term allopregnanolone levels.
8 citations
,
November 2012 in “Journal of Endocrinological Investigation” This study found that Greek women with classic PCOS phenotypes have a higher risk of metabolic syndrome and impaired glucose homeostasis compared to those with newer PCOS phenotypes.