13 citations
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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.
April 2026 in “International Journal of Clinical Case Reports and Reviews” In this preclinical study, researchers developed and evaluated a new non-invasive laser system designed for personalized medical use, showing its potential for chronic disease management and adjunctive fat reduction by offering enhanced treatment precision and adaptability over existing devices.
24 citations
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September 2020 in “Pharmaceutics” In this study, solid lipid microparticles loaded with lidocaine hydrochloride were developed to effectively deliver pain relief and antimicrobial benefits for wound management, demonstrated by testing with bioengineered skin substitutes and showing effectiveness against common wound-infecting bacteria.
1 citations
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January 2022 in “Research Square (Research Square)” This study found that CRISPR/Cas9 efficiently edited two cellulose synthase-like genes in spinach, significantly altering root hair growth patterns and suggesting potential for large-scale genome editing in this crop.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
23 citations
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October 2021 in “AAPS PharmSciTech” 8 citations
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January 2022 in “Journal of Experimental Orthopaedics” This scoping review explores devices that mechanically process lipoaspirate for cell-based therapies but finds insufficient evidence to determine their clinical effectiveness due to lack of standardization and data variability.
20 citations
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February 2010 in “Journal of Investigative Dermatology” Slug (Snai2) helps regulate hair growth timing in mice.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
12 citations
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December 2013 in “Immunological Investigations” This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
October 2007 in “Revue du Rhumatisme”
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
April 2026 in “International Journal of Drug Delivery Technology” This study found that Lactobacillus acidophilus cell-free supernatant caused significant cytotoxicity, reduced migratory ability, and induced apoptosis in cervical cancer cell lines, suggesting its potential as a non-toxic adjunct therapy for cervical cancer.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
1 citations
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August 2021 in “Journal of Investigative Dermatology” ASLAN004 was safe and well-tolerated, supporting further development for treating certain diseases.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
14 citations
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January 2001 in “Current Treatment Options in Oncology” Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
13 citations
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September 2012 in “Cell & tissue research/Cell and tissue research” In this study, researchers found that the pCLCA2 protein is expressed in specific areas of pig skin, but its role in skin structure or function remains unclear.
1 citations
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February 2025 in “Journal of Dairy Science” In this study, researchers found that the SLICK1 allele in cattle may alter local immune regulation, hair growth, and tissue remodeling, as indicated by differential gene expression pathways associated with immune and inflammatory responses in slick vs. nonslick Holsteins.
89 citations
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November 2014 in “International Journal of Nanomedicine” This study suggests that spironolactone-loaded nanostructured lipid carriers could enhance follicular delivery and offer a more localized treatment for androgenic alopecia, potentially reducing systemic side effects.
44 citations
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February 2016 in “Science” Researchers developed a new type of memory using antiferromagnets that is stable, not disrupted by magnets, and works at room temperature.
February 2024 in “Plant Cell Reports” This study found that the retromer protein AtVPS29 in Arabidopsis plants modulates gibberellin signaling by upregulating the SLY1 protein and downregulating the RGA protein, ultimately enhancing the development of the root meristematic zone.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
April 2017 in “Journal of Investigative Dermatology” This study suggests that sirolimus and propranolol may reduce abnormal lymphatic endothelial cell proliferation in lymphatic malformations, potentially improving vessel function and patient outcomes.
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.
3 citations
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August 2024 in “Molecular Biology Reports” This study found that the lncRNA018392, responsive to melatonin, accelerates cell proliferation in cashmere goats by recruiting the transcription factor SPI1 to upregulate the nearby gene CSF1R, which may explain the molecular mechanisms of cashmere growth.
5 citations
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November 2022 in “Genetics selection evolution” This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.