August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
21 citations
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September 2021 in “New Phytologist” This study found that the transcription factor HB24 plays a critical role in root hair elongation in Arabidopsis thaliana by promoting the conversion of indole-3-butyric acid to indole-3-acetic acid through regulation of IBR1 expression.
5 citations
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March 2019 in “Journal of lipid research” This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.
45 citations
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January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
41 citations
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April 2016 in “Journal of experimental botany” This research suggests that the barley protein RACB supports cell polarity functions rather than interfering with immunity, as it aids nucleus positioning during fungal attack rather than affecting early immune responses.
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.
6 citations
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May 1997 in “Journal of Dermatological Science” This study found that a gene from hamster flank organs is indirectly regulated by androgens, despite lacking direct androgen responsive elements, indicating involvement of androgen-dependent transcription factors.
51 citations
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December 2006 in “Mammalian Genome”
July 2022 in “New Zealand journal of agricultural research” This study found that variation in the ovine KRTAP27-1 gene may influence wool growth, with certain genotypes associated with higher mean staple length and greasy fleece weight in sheep.
3 citations
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May 2018 in “The Indian Journal of Animal Sciences” This study suggests that the KAP 7 gene may serve as a potential molecular marker for genetic selection to improve staple length and greasy fleece weight in Rambouillet sheep.
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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September 2024 in “PLANT PHYSIOLOGY” This study in Arabidopsis thaliana found that exposure to volatile compounds from Penicillium aurantiogriseum promotes root hair growth through signaling involving RALF22, ethylene, auxin, and photosynthesis, and that RALF22 plays a crucial role in the plants' response to these compounds.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
36 citations
,
July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
15 citations
,
September 2018 in “Frontiers in Plant Science” This study identified that downregulation of the gene BcFLA1 decreases root hair length in Brassica carinata under phosphate-deficient conditions, highlighting its role in root hair elongation.
14 citations
,
March 2022 in “Plant Cell & Environment” In this study, the authors reported that AtRXR3, a phosphorus-inducible DUF506 protein, modulates root hair growth under phosphorus stress by interacting with calmodulin and influencing calcium oscillations.
3 citations
,
December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
February 2020 in “Definitions” This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
1 citations
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July 2025 in “Journal of Investigative Dermatology” IL-27 may help prevent hair loss by creating immune-suppressing cells.
December 2023 in “Sains Malaysiana” In this study, researchers used in silico mutagenesis to identify key calcium-binding sites influencing the stability of Rand protease from Bacillus subtilis, potentially enhancing its application in industries like leather dehairing by improving stability and eliminating the need for additional metal ions during the process.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
106 citations
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March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
117 citations
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August 1999 in “Nature Genetics” 67 citations
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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.
5 citations
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December 2023 in “Current Biology” A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.
33 citations
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February 2016 in “Journal of Experimental Botany” This study found that the receptor kinase RHS10 negatively regulates root hair growth in Arabidopsis thaliana by modulating growth duration and is associated with cell wall signal mediation, involving RNA catabolism and ROS accumulation.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.