1 citations
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July 2023 in “Journal of Animal Science and Biotechnology” This study discovered that lambs with coarse, ancestral-like wool in a population of modern fine wool sheep exhibited overexpression of the SOSTDC1 gene, linked to epigenetic changes, which helps understand the development and diversification of wool types in sheep breeding.
1 citations
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July 2025 in “Journal of Human Immunity” This study found that administering minoxidil and PGE2 to pregnant mice with 22q11.2 deletion syndrome models corrected multiple developmental anomalies, including thymus growth and parathyroid positioning, by targeting prenatal mesenchymal differentiation.
February 2024 in “New phytologist” This study reported that during wheat polyploidization, decreased DNA methylation and specific hypomethylated promoters were associated with altered gene transcription, contributing to root hair elongation and improved nitrate uptake, highlighting the role of epigenetic regulation in enhancing crop traits.
June 2023 in “International journal of molecular sciences” In this study, researchers observed that heat stress significantly affected hair and skin traits in two indigenous goat breeds, with Kodi Aadu goats demonstrating greater thermal resilience compared to Kanni Aadu goats, potentially due to differences in gene expression and methylation.
This study provides genomic and epigenomic insights into the white wax scale insect, highlighting high methylation levels and differential hormone profiles linked to its sexual dimorphism and developmental differences.
November 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study identified melatonin as a potential treatment for rosacea and Alzheimer's disease, suggesting it may help by modulating inflammatory and vascular signaling pathways.
May 2004 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” This study found that dietary vitamin E influenced gene expression in rat livers, altering genes related to metabolism, coagulation, and steroid processing, and confirmed its effects on related biological endpoints.
November 2022 in “Annals of Translational Medicine” This study identified four hub genes that are closely linked to the causative factors of androgenetic alopecia, suggesting potential diagnostic and therapeutic targets.
8 citations
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December 2017 in “Small Ruminant Research” This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
3 citations
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July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.
11 citations
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December 2018 in “Bone” This study found that a high-energy shock wave can increase osteogenic activities in human mesenchymal cells, offering insights into potential therapeutic targets for trauma-induced heterotopic ossification.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
January 2025 in “Cell Communication and Signaling” This study reviews the role of the zinc finger protein CXXC5 in cellular signaling and its implications for cancer, discussing how its dysregulation is linked to various physiological and pathological processes, as well as potential therapies targeting CXXC5.
This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.
215 citations
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November 2000 in “Journal of Investigative Dermatology” This study found that the tetracycline-regulated transcription system effectively controls conditional gene expression in the mouse epidermis, allowing suppression and activation of specific genes with doxycycline.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
May 2022 in “International Journal of Health Sciences (IJHS)” This review discusses the diverse medicinal uses and pharmacological aspects of Hibiscus Rosa Sinensis Linn and highlights the need for further research on this plant.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
October 2023 in “Lithuanian University of Health Sciences” This study investigated the TG5 gene polymorphism in Lithuanian beef cattle, finding that the CC genotype is associated with higher productivity traits, such as live weight and carcass weight, compared to other genotypes, and noted a statistically significant impact on these traits.
46 citations
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November 2019 in “Journal of Integrative Plant Biology” This study found that calmodulin 7 (CaM7) inhibits the calcium channel CNGC14 in root hairs, affecting their polar growth by controlling calcium signaling.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.