13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that tissue transglutaminase (TG2) may play a role in sebum production by regulating autophagy in sebaceous glands, offering potential targets for dermatological interventions.
12 citations
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March 2009 in “Aesthetic Surgery Journal” This study reports that the modified lateral brow lift effectively elevates the lateral brow with minimal complications, preserving scalp sensory innervation.
2 citations
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November 2023 in “Skin Appendage Disorders” This case report documents the rare occurrence of lipedematous scalp in two black Caribbean female siblings, suggesting a potential genetic factor and noting psychiatric co-morbidities as novel associations.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.
November 2025 in “The Journal of Immunology” This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.
This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.
8 citations
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January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
9 citations
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July 2010 in “British Journal of Dermatology” This article reports on lentiginosis observed within plaques of linear atrophoderma of Moulin and discusses its potential classification as a twin-spotting phenomenon but provides no new clinical research results.
31 citations
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April 2005 in “American journal of ophthalmology” This case report identified lash ptosis as a potential complication of latanoprost therapy in a 61-year-old man with ocular hypertension.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this mouse model study, researchers found that deleting the ASH2L gene in epidermal progenitor cells led to thinner epidermal layers, delayed hair follicle development, and reduced epidermal stem cell pools, with alterations in genes related to hair follicle development and the Notch signaling pathway.
17 citations
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September 2018 in “Matrix Biology” The researchers reported that mouse keratinocyte-specific deletion of laminin γ1 led to delayed coat pigmentation due to impaired melanocyte migration and differentiation, linked to altered laminin composition in the basement membrane.
146 citations
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May 2002 in “The American journal of pathology” This study found that cathepsin L deficiency in mice led to significant abnormalities in hair follicle development and cycling, including disrupted hair shaft outgrowth and premature hair growth phase entry.
36 citations
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November 2005 in “Journal of The American Academy of Dermatology” This article discusses the potential of latanoprost for treating alopecia areata, but notes that well-controlled studies are still needed to confirm its effectiveness.
44 citations
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November 2016 in “Journal of The American Academy of Dermatology” This article updates a diagnostic tool (SALT II) for assessing hair loss by adding more precise measurements of scalp surface area, particularly useful for various types of alopecia.
March 2024 in “Cytologia” In this study, researchers observed that melatonin-mediated LncRNA MTC in Liaoning cashmere goat skin fibroblasts enhances cell proliferation by interacting with the GSTM1 protein, affecting its complex formation with ASK1 and thereby inhibiting apoptosis, which may be relevant for improving cashmere growth.
63 citations
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May 2015 in “PloS one” This study found that GALT5 and GALT2 are redundant enzymes essential for O-glycosylation of AGPs, with mutations leading to significant growth and development defects in plants.
November 2021 in “Research Square (Research Square)” This study found that a 532 nm laser at 15 J/cm² enhanced the proliferation and differentiation of tendon-derived stem cells in rats, potentially accelerating tendon healing through the up-regulation of Nr4a1.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.
6 citations
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April 2010 in “Journal of Dermatological Science” This study observed that downregulation of laminin-511 plays an important role in hair regression during the catagen stage in mice.
February 2021 in “PubMed” This case report presents a 2-year-old girl with type B loose anagen syndrome diagnosed through a painless hair pull test, avoiding unnecessary further tests or referrals.
19 citations
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May 2016 in “Matrix Biology” In this mouse study, researchers found that the absence of laminin-511 in skin delays hair follicle development and disrupts hair shaft differentiation, affecting key transcription factors for hair keratins.
7 citations
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September 2015 in “Archives of Plastic Surgery” This study reported that an open surgical technique for lateral brow lifts produced satisfactory results in most patients (94.41%) and was associated with long-lasting effects and some complications.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.