July 2017 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers investigated the role of the ATX-LPA axis in asthma pathogenesis using human and mouse models and highlighted the potential for developing new ATX inhibitors as effective asthma treatments.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
January 2025 in “Aesthetic Surgery Journal Open Forum” This study investigated a fat grafting technique (MID BACK) to enhance back muscle definition in patients undergoing liposculpture, reporting no adverse events and only minor complications, suggesting the method is safe and effective for improving muscular contours and correcting spinal asymmetries.
August 2009 in “Mechanisms of Development” September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that TGM2 appears to play a crucial role in sebocyte differentiation and may act as a negative regulator of lipid metabolism in sebaceous glands.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” In this study, transgenic mice with a truncated latent transforming growth factor-beta-binding protein showed reduced keratinocyte proliferation and alterations in the hair cycle due to mis-localization of transforming growth factor-beta.
64 citations
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November 2012 in “EMBO reports” This review discusses the role of lamins in development, tissue maintenance, and stress response, and does not report new experimental findings.
March 2026 in “Folia Histochemica et Cytobiologica” This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.
191 citations
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November 2007 in “Journal of Biological Chemistry” This review discusses the acyl-CoA synthetase very-long-chain (ACSVL) enzyme family, including its biochemical characteristics, tissue expression, and involvement in lipid metabolism, but presents no new experimental results.
June 2025 in “International Journal of Molecular Sciences” This review compiles current research on the role of long non-coding RNAs in regulating muscle growth and regeneration processes, particularly their influence on Duchenne muscular dystrophy, and reports no new clinical results.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
10 citations
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March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
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.
56 citations
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October 2007 in “Journal of Biological Chemistry” This study concluded that dilated cardiomyopathy in Ctsl-deficient mice is mainly due to the lack of cathepsin L in cardiomyocytes, with additional heart stress from the fur defect.
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.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
23 citations
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February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
November 2022 in “Gigascience” This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.
May 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found potential evidence of inducible skin-associated lymphoid tissue (iSALT) in alopecia areata patients undergoing topical immunotherapy, which may suggest an essential role in treatment efficacy.
2 citations
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April 2025 in “Plants” This study found that lambertianic acid from Platycladus orientalis leaves may protect against dexamethasone-induced skeletal muscle atrophy by reducing atrophy-related proteins without affecting cell viability.
113 citations
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June 2010 in “Biological Chemistry” This study found that mice deficient in the enzyme cathepsin L exhibited impaired degradation of autophagolysosomal content, leading to an accumulation of large, abnormal vesicles in various tissues.
4 citations
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March 2018 in “Animal biotechnology” This study suggests that the LAMTOR3 gene may play a role in the development of hair follicles and cashmere growth in Liaoning cashmere goats by influencing the MAPK signaling pathway.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
50 citations
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February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study reports a rare case of two siblings with lipoedematous scalp, suggesting a possible genetic link that warrants further investigation.
40 citations
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May 2005 in “Journal of Cell Science” In this study, transgenic mice expressing a truncated form of latent transforming growth factor-β-binding protein exhibited altered hair cycles due to increased active transforming growth factor-β, impacting keratinocyte proliferation and hair cycle phases.
43 citations
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January 2016 in “Development” This study identified a critical NF-κB-LHX2-TGFβ2 signaling pathway essential for primary hair follicle development in mice, revealing new insights into the underlying mechanisms of morphogenesis.