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.
32 citations
,
May 2018 in “The Plant Cell” This article discusses the crucial role of root hairs in water and nutrient uptake from soil and reports no new findings.
September 2025 in “PeerJ” This study found that the genes FCER1A and RGS1 are promising biomarkers for diagnosing systemic lupus erythematosus, with FCER1A downregulated and RGS1 upregulated in patients.
58 citations
,
April 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified that the enzyme CYP2B12 is skin-specific and likely plays a role in the metabolism of arachidonic acid, a key component in lipid signaling within sebaceous glands.
25 citations
,
June 2014 in “Journal of Endocrinology/Journal of endocrinology” This study found that local androgen biosynthesis and metabolism in human sebaceous glands play a crucial role in sebum synthesis and secretion.
1 citations
,
September 2015 in “Elsevier eBooks” This review discusses the role of Sox2 in skin development, hair follicle regeneration, cancer, and wound healing, and reports no new experimental results.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
2 citations
,
August 2022 in “Frontiers in Veterinary Science” This study constructed a ceRNA regulatory network related to cashmere goat secondary hair follicle development, highlighting the role of circRNA in their morphogenesis through the ceRNA mechanism.
103 citations
,
March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
39 citations
,
April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
June 2026 in “Frontiers in Cell and Developmental Biology” This review synthesizes the diverse roles of the transcription factor LHX2 in development, tissue maintenance, and injury repair across various organ systems, highlighting its potential therapeutic applications and significance in regenerative medicine, particularly in developmental disorders and tissue regeneration.
45 citations
,
September 1998 in “Journal of Investigative Dermatology” This study found that sebaceous glands predominantly exhibit oxidative activity of the type 2 17β-hydroxysteroid dehydrogenase isozyme, which is not inhibited by 13-cis retinoic acid.
1 citations
,
November 2025 in “Aging Cell” This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.
12 citations
,
February 2023 in “Applied and Environmental Microbiology” This study reported that structure-guided engineering of CYP154C2 mutants significantly improved the 2α-hydroxylation of androstenedione and testosterone, with enhanced conversion efficiency and substrate selectivity compared to the wild-type enzyme.
305 citations
,
March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
In this study, Sox13 was identified as a novel marker for early hair follicle development and differentiation in mice, though it appears to be dispensable for overall epidermal and adnexal development.
6 citations
,
March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
3 citations
,
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.
43 citations
,
September 2014 in “Molecular Plant” This study found that the signaling peptide CLE40 and receptor proteins CLV2 and CRN regulate root meristem differentiation through two distinct, antagonistic pathways activated by CLE40 in a dose-dependent manner.
January 2008 in “Memorial University Research Repository (Memorial University)” This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.
106 citations
,
June 2009 in “BMC Genomics” This study identified specific gene expression profiles during the intestinal regeneration of sea cucumbers, highlighting potential novel genes and advancing the understanding of regenerative biology in echinoderms.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
28 citations
,
September 1998 in “Journal of Investigative Dermatology” This study isolated and characterized two distinct types of caspase-like proteases from human epidermis, suggesting their involvement in keratinocyte differentiation and apoptosis processes.
11 citations
,
January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
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.
January 2024 in “Journal of Applied Pharmaceutical Science” This study identified procyanidin B2 and leucopelargonidin from Saraca asoca as potential inhibitors in PCOS by showing high binding energy scores against key enzymes involved in estrogen and testosterone biosynthesis.
9 citations
,
August 2021 in “Biomedicines” This study found that 17β-estradiol was the most powerful hormone for inducing APE1/Ref-1 secretion in cultured vascular endothelial cells, with secretion occurring through exosomes dependent on estrogen receptors and intracellular calcium.
3 citations
,
December 2023 in “Aging” In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.
3 citations
,
July 2020 in “Synthetic and Systems Biotechnology” This study found that the cytochrome P450 enzyme CYP-sb21 can hydroxylate cyclosporine A at multiple positions, reducing its immunosuppressive effects but retaining its hair growth-promoting side-effect, and suggests modifications to improve regioselectivity for commercial use.