90 citations
,
May 2018 in “Molecular Cell” Caspase-3 helps control cell growth and organ size by activating YAP.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
314 citations
,
April 2010 in “Developmental Cell” This study found that in mice, inactivating beta-catenin in the dermal papilla reduces hair follicle progenitor proliferation and disrupts the hair cycle.
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.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that overexpression of the anti-apoptotic protein Bcl-2 in mice disrupted cell death during the hair cycle, impairing hair regeneration by delaying anagen entry and hair growth.
96 citations
,
October 2000 in “The FASEB Journal” In this study, researchers found that p75 neurotrophin receptor signaling affects apoptosis during hair follicle regression in mice, and altering its activity might help manage disorders involving early catagen entry.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
101 citations
,
November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
415 citations
,
January 2008 in “Cell” NFATc1 controls hair stem cell activity, affecting hair growth and could be a target for hair loss treatments.
7 citations
,
May 2021 in “EBioMedicine” This study observed that aberrant DNA methylation in murine and human cutaneous squamous cell carcinoma likely contributes to the silencing of tumor suppressor genes, notably affecting the FILIP1L gene.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
70 citations
,
August 2006 in “Cancer Research” This study found that inhibiting AP-1 activity in mice modified tumor development, leading to transdifferentiation between squamous and sebaceous tumors, with molecular analysis suggesting AP-1's role in maintaining tumor cell identity.
September 2016 in “Journal of Dermatological Science” This study found that epidermal-specific deletion of aPKCλ in mice disrupted hair follicle stem cell quiescence and regeneration, leading to abnormal hair cycling and skin changes.
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.
53 citations
,
October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
14 citations
,
May 2016 in “International Journal of Molecular Sciences” This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.
24 citations
,
January 2019 in “Theranostics” This study found that loss of the Pten gene in Lgr5+ hair follicle stem cells promoted squamous cell carcinoma formation through the Akt/β-catenin signaling pathway.
75 citations
,
September 2016 in “EMBO journal” This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.
April 2010 in “Cancer Research” This study suggests that Mcl-1 has a non-apoptotic role in promoting keratinocyte proliferation and Wnt/β-catenin signaling, potentially indicating a novel oncogenic activity.
January 2026 in “Biomaterials” 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.
17 citations
,
January 2010 in “PubMed” CD10 helps distinguish between basal cell carcinoma and benign hair follicle tumors.
October 2014 in “Cancer research” This study found that targeting mTORC1 with rapamycin effectively inhibited skin tumor promotion in a mouse model, highlighting a potential target for cancer chemoprevention.
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.
176 citations
,
February 2006 in “Cancer Research” This study found that loss of Ptch1 function in mouse skin's basal cells is sufficient to rapidly induce tumors resembling human basal cell carcinoma, suggesting Ptch1 as a key tumor suppressor.
December 2022 in “Frontiers in plant science” This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
19 citations
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January 2018 in “BioMed Research International” This study suggests that miRNAs, particularly miR-195-5p, may regulate the loss of hair follicle inductivity in cultured dermal papilla cells by suppressing the Wnt/β-catenin pathway.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
In this study, researchers observed that oncogenic HrasG12V in single murine epidermal cells leads to an initial increase in progenitor cell renewal, but ultimately results in balanced cell fate choices that limit clone growth.