13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
9 citations
,
April 2022 in “Cell Communication and Signaling” This study found that the S100A4/NMIIA axis contributes to glioblastoma progression by recruiting and promoting migration of GBM cells along blood vessels, correlating with worse patient outcomes.
36 citations
,
March 2014 in “Cell death and differentiation” This study indicated that abnormal Bmp signaling in β-catenin gain-of-function mutants is associated with anorectal malformations, shedding light on potential mechanisms underlying these congenital conditions.
26 citations
,
June 2004 in “Clinical Genetics” This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.
7 citations
,
April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
November 2022 in “Journal of Investigative Dermatology” This study suggests that human dermal papilla cells respond to hypoxia by increasing the expression of HIFs, TGF-β2, and BMP4, which may influence hair cycle regulation.
August 2016 in “Journal of Investigative Dermatology” This study suggests that differential expression of miRNAs in hair follicles from the frontal and occipital scalp may contribute to the androgen-dependent changes seen in male pattern baldness.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
222 citations
,
August 2014 in “Cell Metabolism” In this study, researchers found that mitochondrial complex I plays a crucial role in regulating innate immunity and bone remodeling, with Ndufs4 deletion causing systemic inflammation and osteopetrosis through various metabolic shifts and cellular mechanisms.
June 2021 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The researchers reported that basement membrane heterogeneity, especially laminin α5 composition, plays a critical role in distinct inter-tissue interactions and hair cycle regulation in mouse hair follicles.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
8 citations
,
December 2022 in “International journal of molecular sciences” This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.
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.
1 citations
,
January 1999 in “Proceedings of the British Society of Animal Science” This research investigates apoptosis and bcl 2 expression in hair follicles cultured with and without biotin, but it reports no new results.
16 citations
,
June 1983 in “Journal of Neurochemistry” This study found that copper injections increased dopamine-β-hydroxylase activity in the brains of mottled mice, an animal model for Menkes' syndrome.
5 citations
,
January 2012 in “PubMed” This study observed that anti-multiple nuclear dots antibodies, typically markers for primary biliary cirrhosis, were also present in patients with various autoimmune and connective tissue diseases, without correlating to disease activity or specific skin features.
13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
2 citations
,
October 2017 in “PubMed” This study found that serum bone metabolic markers with mild changes are interdependently related to traditional Chinese medicine syndromes in patients with chronic kidney disease-related bone disorders.
4 citations
,
February 2012 in “Chinese Science Bulletin” In this study, overexpression of the MtAnn3 gene in Medicago truncatula roots was associated with altered root hair growth polarity in a calcium-free environment.
December 2025 in “International Journal of Surgery” In this study, researchers identified a causal link between Epstein-Barr virus infection and clear cell renal cell carcinoma, highlighting GBP1 as a key target and suggesting finasteride as a potential inhibitor, offering a new direction for treatment strategies.
1 citations
,
January 2024 in “Wiadomości Lekarskie” This study evaluated a new computer-aided detection system for identifying Breast Arterial Calcification in mammograms, achieving 70% accuracy, but highlighted the need for a larger dataset to explore its relationship with cardiovascular diseases.
16 citations
,
March 2015 in “Clinical and experimental dermatology” This study found that mycophenolic acid promotes dermal papilla cell proliferation and anagen hair follicle induction in mice, suggesting potential as a treatment for hair-loss disorders.
93 citations
,
April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
36 citations
,
June 2019 in “eLife” This study introduces MicrobeFDT, a tool that clusters chemically similar compounds and links them to gut microbial enzymes and toxicities, demonstrating its utility by uncovering previously unknown metabolism of the cancer drug altretamine.
April 2016 in “Journal of Investigative Dermatology” This study found that the peptide derivative beta-Ala-Pro-Dab-NHbenzyl may reduce wrinkles and sebum production in human skin by inhibiting dipeptidyl peptidase 4, suggesting potential for acne and skin inflammation treatment.
16 citations
,
September 2006 in “The Journal of Immunology” This study identified that mouse MILL1 and MILL2 are glycoproteins distinct from human MICA/B, primarily due to their association with β2-microglobulin and TAP-independent surface expression.
59 citations
,
March 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This review examines the roles of Smad-4 and Smad-7 in hair follicle differentiation and development through BMP signaling and TGFβ/Activin/BMP pathway inhibition but reports no new experimental results.
May 2023 in “The Journal of Immunology” In this study, researchers found that BST2 expression is significantly upregulated in skin sections of mice with alopecia areata, implicating BST2's role in the disease pathogenesis through the action of epidermal γδ T cells and macrophages.
7 citations
,
January 2009 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study found that D-004, a hexanic extract from the Cuban royal palm fruit, did not cause genotoxic effects in male germ cells of mice over an 8-week period.