26 citations
,
September 1999 in “Canadian Journal of Botany” This study found that a recessive mutation in the RHD4 gene of Arabidopsis thaliana leads to slower and more variable tip growth in seedling root hairs, resulting in shorter and wider hairs than in wild-type plants.
1 citations
,
January 2023 in “Biochemical and biophysical research communications” This study found that hepatic KRT79 expression is regulated by PPARA and is significantly associated with liver stress, suggesting it may serve as a diagnostic marker for liver diseases.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies Armadillo Repeat Only proteins as crucial regulators of plant CNGC channels, influencing various plant functions and showcasing a unique plant-specific role in Ca2+ signaling.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
April 2012 in “Development” This study found that Rac1 activity in specific skin compartments is sufficient for hair formation, but results in hair with altered structure and pigmentation compared to normal.
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.
10 citations
,
August 1998 in “Journal of Investigative Dermatology” 1 citations
,
January 2023 in “Frontiers in genetics” This study identified specific genetic markers related to wool quality in Rambouillet sheep, which may aid breeders in making informed selection and breeding decisions for improved fine wool production.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.
September 2023 in “Journal of the American Academy of Dermatology” 42 citations
,
August 1995 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that RXR-alpha is strongly expressed in both normal and psoriatic human skin, suggesting it may play a role in the transition from proliferation to differentiation in epidermal keratinocytes.
147 citations
,
October 2021 in “Cancer Communications” This study found that the novel anti-HER2 antibody RC48 demonstrated promising activity and manageable safety in patients with HER2-overexpressing, advanced gastric or gastroesophageal junction cancer after at least two prior chemotherapy lines.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
25 citations
,
November 2010 in “Journal of Molecular Structure” This preliminary study suggests that Raman micro-spectroscopy can help differentiate basal cell carcinoma from hair follicles in skin tissue sections, although some misclassification of hair follicles as carcinoma was observed.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
January 2026 in “SSRN Electronic Journal”
29 citations
,
January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
6 citations
,
September 2021 in “Experimental Brain Research” In this study, researchers found that the glabrous skin of the rat forelimb contains sparse Meissner corpuscles and Merkel complexes, with more slowly adapting afferents in the palm and rapidly adapting afferents in the digit extremity.
1 citations
,
September 2021 in “Cureus” This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.
11 citations
,
January 2012 in “Journal of cell science” This study demonstrates that Rac1 activity is essential for normal hair follicle formation but influences hair structure and pigmentation, in terminal differentiation, through alterations in hair shaft, cuticle, and pigmentation organization.
2 citations
,
May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
32 citations
,
July 2018 in “FEBS letters” In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.
August 2009 in “Mechanisms of Development”
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
34 citations
,
January 2016 in “Analytical Chemistry” This study reports that a new DART-HRMS method can effectively analyze intact hair for drug use timelines, with cocaine detection aligning with forensic standards and identifying multiple drugs from high-resolution data.
4 citations
,
April 2020 in “Dermatology practical & conceptual” This review outlines the practical use of reflectance confocal microscopy in dermatology, detailing its applications and considerations for diagnosing various skin conditions, but reports no new findings.
67 citations
,
August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.