mProX™ Human STK38L Stable Cell Line

Ben-Mahmoud, Afif. et al. "A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome." Scientific reports, 2023.
The study investigated the genetic factors contributing to the presentation of Kallmann syndrome (KS) and intellectual disability (ID) in a patient with both conditions and an additionally diagnosed balanced translocation t(7;12)(q22;q24)dn. Through array comparative genomic hybridization (aCGH), a previously unrecognized deletion at 12p11.21p11.23 was discovered, prompting further analysis of its potential involvement in the patient's conditions. Subsequently, five candidate genes at the translocation breakpoints were screened in a cohort of 48 KS patients, but no mutations were identified. Six additional patients with similar small copy number variations (CNVs) were enlisted, and eight individuals from the DECIPHER database were analyzed in order to gain a deeper understanding of the 12p11.21-12p11.23 region. A comprehensive comparison of phenotypes and genotypes was conducted, as well as an examination of knockout animal models and reported variants in candidate genes and their association with corresponding phenotypes. Ultimately, twelve potential candidate genes were identified, with TSPAN11 as a possible KS candidate gene, and TM7SF3, STK38L, ARNTL2, ERGIC2, TMTC1, DENND5B, ETFBKMT, INTS13, REP15, PPFIBP1, and FAR2 as candidate genes for the neurodevelopmental disorder or for KS with ID. The high expression levels of these genes in relevant human tissues further support their candidacy. The authors suggest that alterations in the dosage of these candidate genes may contribute to the manifestation of sexual and cognitive impairments observed in patients with KS and/or ID, however further identification of point mutations through next-generation sequencing is necessary to confirm their roles.
Ben-Mahmoud, Afif. et al. "A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome." Scientific reports, 2023.
Pubmed: 37563198   DOI: 10.1038/s41598-023-40037-4

F Santos, Paulo. et al. "The NDR/LATS protein kinases in neurobiology: Key regulators of cell proliferation, differentiation and migration in the ocular and central nervous system." European journal of cell biology, 2023.
Nuclear Dbf2-related (NDR) kinases are a subgroup of evolutionarily conserved AGC protein kinases that regulate various aspects of cell growth and morphogenesis. In mammals, there are four known NDR protein kinases, including LATS1, LATS2, STTK8/NDR1, and STK38L/NDR2. LATS1 and LATS2 are integral components of the Hippo pathway, which is crucial for controlling cell proliferation, differentiation, and migration through the YAP/TAZ transcription factor. The Hippo pathway also has a significant role in nervous tissue development and homeostasis, particularly in the central nervous system (CNS) and ocular system. The ocular system contains various tissues, such as choroidal and retinal blood vessels, retinal pigmented epithelium, and the retina, all of which require precise coordination for proper function. This review examines the emerging functions of NDR1 and NDR2 kinases in the regulation of neuronal function and homeostasis via a noncanonical branch of the Hippo pathway. Additionally, we explore the potential of NDR1 and NDR2 kinases as therapeutic targets for the treatment of neuronal diseases, specifically in the regulation of neuronal inflammation.
F Santos, Paulo. et al. "The NDR/LATS protein kinases in neurobiology: Key regulators of cell proliferation, differentiation and migration in the ocular and central nervous system." European journal of cell biology, 2023.
Pubmed: 37327741   DOI: 10.1016/j.ejcb.2023.151333