• Pulmonary alveolar proteinosis (PAP) is a rare lung disorder of unknown etiology characterized by disorders of surfactant homeostasis (clearance and production), which are caused in part by mutations in genes necessary for normal surfactant production. (medscape.com)
  • Genetic testing for deleterious mutations in breast cancer 1, early onset gene ( BRCA1 ) and BRCA2 can provide key information to guide clinical decision making. (jci.org)
  • Women who are heterozygous carriers of mutations in either gene have a 60%-80% lifetime risk of breast cancer and a 10%-40% lifetime risk of ovarian cancer ( 1 ), reflecting a very high penetrance. (jci.org)
  • The strong genetic association of PTCHD1 -AS with ASD has prompted Scherer and his group to initiate pilot studies in model systems to understand the functional consequences of mutations within this gene. (sfari.org)
  • Incontinentia pigmenti is caused by mutations in the NEMO/IKK -gamma gene, which is located on chromosome Xq28. (medscape.com)
  • A single mutation in NEMO/IKK -gamma involving the deletion of exons 4 through 10 accounts for most (80%) incontinentia pigmenti mutations. (medscape.com)
  • A local high frequency of microhomologies, macrohomologies, tandem repeats, and repeat/repetitive sequences contribute to a high rate of nonallelic homologous recombination involving NEMO , resulting in the development of de novo deletion mutations. (medscape.com)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • [ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
  • This phenomenon has been modeled in C57BL/6 mice depleted of CD4 T cells prior to infection with DelNSs RVFV (RVFV containing a deletion of NSs), resulting in late-onset encephalitis accompanied by high levels of viral RNA in the brain in 30% of animals. (cdc.gov)
  • The viral epitopes targeted by CD4 and CD8 T cells were defined in C57BL/6 mice, and tetramers for both CD4 and CD8 T cells were generated. (cdc.gov)
  • Figure 6: Insulin-regulated expression of Foxo1 target genes was compromised in the Foxo1 −/− and TLKO primary hepatocytes. (nature.com)
  • RIViT-seq technology could speed up associating transcription factors with their target genes. (doe.gov)
  • Nrf2 activates transcription of antioxidant enzymes by binding to the antioxidant response element (ARE) in the promoter regions of its target genes [ 23 , 24 ]. (hindawi.com)
  • Upon exposure to ROS, Keap1 undergoes a conformational change that allows Nrf2 to translocate to the nucleus, bind to the ARE region, and initiate transcription of target genes [ 24 ]. (hindawi.com)
  • Oxidized Keap1 dissociates from Nrf2, allowing Nrf2 to translocate to the nucleus, bind to the ARE region, and initiate transcription of target genes. (hindawi.com)
  • A nude mouse is a laboratory mouse from a strain with a genetic mutation that causes a deteriorated or absent thymus, resulting in an inhibited immune system due to a greatly reduced number of T cells. (wikipedia.org)
  • The genetic basis of the nude mouse mutation is a disruption of the FOXN1 gene. (wikipedia.org)
  • Pharmacological inhibition, genetic silencing or knockout of Plk1 attenuated obstructive nephropathy due to suppressed fibroblast activation mediated by reduced autophagic flux. (nature.com)
  • In this study, we explored the role of Plk1 in the classical kidney fibrosis model, UUO, and cultured fibroblast and renal tubular epithelial cells by using specific Plk1 inhibitors, genetic silencing, and heterozygous global knockout mice. (nature.com)
  • A) Schematic representation of the genetic background of cre/+ mice vs +/+ controls. (medicalxpress.com)
  • This model is amenable to additional genetic modifications and deletion of another cancer-related gene, Mmp9 , predictably alters the tumor microenvironment and facilitates cancer progression. (biologists.com)
  • Rapid advances in gene editing and genetic technologies have revolutionised our ability to model human genetic disease and provided new hope for gene therapies. (biologists.com)
  • Genetic deletion of Pard3a did not impair renal function, neither at birth nor later in life. (uni-koeln.de)
  • The genetic basis of this condition remains largely unknown, as no developmental genes other than paired box gene 6 ( PAX6 ) are known to be implicated in sporadic bilateral ONA. (molvis.org)
  • Despite their genetic distinctiveness, PFIC1 and PFIC2 have few clinical differences, and both are caused by the absence of a gene product required for canalicular export and bile formation. (medscape.com)
  • PFIC1 is caused by a genetic mutation in the ATP8B1 gene on chromosome 18q21-22. (medscape.com)
  • Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism. (duke.edu)
  • Here, we describe a complete knockout mouse model of the autism-associated Shank3 gene, with a deletion of exons 4-22 (Δe4-22). (duke.edu)
  • We generated mice that possess a heterozygous deletion of the PTG gene. (jci.org)
  • Although young PTG heterozygous mice initially demonstrate normal glucose tolerance, progressive glucose intolerance, hyperinsulinemia, and insulin resistance develop with aging. (jci.org)
  • Insulin resistance in older PTG heterozygous mice correlates with a significant increase in muscle triglyceride content, with a corresponding attenuation of insulin receptor signaling. (jci.org)
  • Gene-expression analysis of Sin1 knockout cortical neurons demonstrated an important down-regulation of transcription factors, cytoskeletal proteins and components of signalling pathways involved in neuronal survival, aiding to uncover the mechanism by which Sin1 promotes neuronal survival. (bl.uk)
  • GnRH mRNA levels were reduced in Jak2 G −/− mice when compared with controls, while the number of GnRH neurons was equivalent, indicating a reduction in GnRH gene expression. (jneurosci.org)
  • These results demonstrate an essential role for Jak2 signaling in GnRH neurons for normal reproductive development and fertility in female mice. (jneurosci.org)
  • Scherer's laboratory has generated induced pluripotent stem cell (iPSC)-derived neurons from two males with ASD and PTCHD1 -AS deletions (one of these individuals having only exon 3 within PTCHD1 -AS missing) and isogenic lines with exon 3 of PTCHD1 -AS deleted. (sfari.org)
  • Patch clamp recordings of spontaneous inhibitory postsynaptic currents showed that CRS did not affect synaptic GABAergic transmission to the principal neurons in the LA. Lastly, conditional knock-out (cKO) mice that have the Grik1 gene knocked out selectively in the PV-expressing interneurons showed no change in anxiety-like behavior after CRS while their wild-type counterparts demonstrated an increase in anxiety-like behavior observable in the elevated plus maze test. (helsinki.fi)
  • To study the contribution of Par3A in this complex, we generated a novel Pard3 podocyte-specific knockout mouse model by targeting exon 6 of the Pard3 gene. (uni-koeln.de)
  • Recently, Scherer's group also generated two Ptchd1 -as mouse knockout lines, in which exon 3 was targeted. (sfari.org)
  • A bacterial lacZ gene and neomycin resistance cassette was inserted to replace a 52 bp segment within the coding portion of exon 1 such that the endogenous gene promoter drives expression of beta-galactosidase. (jax.org)
  • Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB β). (nature.com)
  • Mutation or deletion of the SHANK3 gene, which encodes a synaptic scaffolding protein, is linked to autism spectrum disorder and Phelan-McDermid syndrome, conditions associated with social memory impairments. (researchgate.net)
  • A recurring problem in the clinic is that many detectable changes within the BRCA1 gene produce subtle alterations to the protein that are not easily recognized as either harmful (loss-of-function) alleles or harmless and thus inconsequential polymorphisms. (jci.org)
  • Streamlining Regulon Identification in Bacteria Regulons are a group of genes that can be turned on or off by the same regulatory protein. (doe.gov)
  • No overt morphological differences were recorded for vessels dissected from KO animals, but SMTNL1 deletion was associated with loss of myosin phosphatase-targeting protein MYPT1 and increase in the myosin phosphatase inhibitor protein CPI-17. (duke.edu)
  • PRNP ( PR io N P rotein) is the human gene encoding for the major prion protein PrP (for pr ion p rotein), also known as CD230 ( cluster of differentiation 230). (wikidoc.org)
  • PR domain-containing protein 9 (PRDM9) is a major regulator of the localization of meiotic recombination hotspots in the human and mouse genomes. (springer.com)
  • One pathway, which has been extensively studied in yeast, is mainly guided by chromatin structure and the other, analyzed in detail in mice, is driven by the sequence-specific DNA-binding PR domain-containing protein 9 (PRDM9). (springer.com)
  • In humans and mice, hotspots are specified by PRDM9, a meiosis-specific PRDM family protein (Baudat et al. (springer.com)
  • Several classes of genes exhibited time-dependent up regulation of transcription, including those involved in protein synthesis, metabolism, cytoskeletal proteins, and calcium binding proteins. (noiseandhealth.org)
  • Among those upregulated genes were two involved in actin signalling: the CDC42 gene encoding a Rho GTPase, and WDR1, which encodes a protein involved in actin dynamics. (noiseandhealth.org)
  • A third gene, UBE3B, encodes an E3 ubiquitin ligase involved in protein turnover. (noiseandhealth.org)
  • A fourth gene encodes a cystein-rich secreted protein that may interact with calcium channels. (noiseandhealth.org)
  • Deletion of GAT2 (both mRNA and protein) neither affected growth, fertility, nor life span under nonchallenging rearing conditions. (knowledgearc.net)
  • In individuals in which the deletion extends beyond PTCHD1 -AS into the next gene ( PTCHD1 , which is protein coding), typically present with both ASD and intellectual disability. (sfari.org)
  • This gene encodes the protein FIC1, also known as ATP8B1. (medscape.com)
  • This suggests that in most patients with PFIC-2, the gene defect is sufficiently severe to produce no product or a protein that cannot be inserted into the canalicular membrane. (medscape.com)
  • In PFIC3, a mutation in the gene ABCB4 on chromosome 7q21 encodes the protein MDR3, which functions in the translocation of phosphatidylcholine across the canalicular membrane. (medscape.com)
  • The MTHFD1L gene encodes the mitochondrial monofunctional enzyme with proven 10-formyltetrahydrofolate synthetase activity. (dcu.ie)
  • PFIC2 is caused by a mutation in the ABCB11 gene on chromosome 2q24 that encodes the bile salt export pump (BSEP). (medscape.com)
  • Consistent with PTCHD1 -AS deletions being found in higher-functioning ASD individuals, a preliminary examination of these knockout mice uncovered social deficits and a stereotypic behavior without any concomitant deficits in motor function, anxiety or exploratory action. (sfari.org)
  • Physical mapping studies indicate that all patients with the common deletion are haploinsufficient for subunit 3 of the COP9 signalosome ( COPS3 ), which is conserved from plants to humans, and in the plant Arabidopis thaliana regulates gene transcription in response to light. (bmj.com)
  • Enhanced long-term and impaired short-term spatial memory in GluA1 AMPA receptor subunit knockout mice: evidence for a dual-process memory model. (ox.ac.uk)
  • Promising evidence points to the direction of GluK1 subunit containing kainate receptors (KARs) having a role in the modulation of GABAergic transmission in the lateral amygdala (LA). The aim of the present study was to investigate whether dysfunction of KARs contribute to stress-induced amygdala hyperexcitability and anxiogenesis in mice. (helsinki.fi)
  • Studies of genetically altered mice ("knock-out mice") with targeted gene deletions for GM-CSF have yielded animals with PAP-like disease. (medscape.com)
  • Deletion of the STAT3 gene in knock-out mice was lethal at the early embryonic stage. (thermofisher.com)
  • Here, through the use of conditional knock-out mice, we demonstrate a requirement for ILK in oligodendrocyte differentiation and axonal myelination in vivo . (jneurosci.org)
  • Knock-out mice lacking various aspects of pathways important in Th1 and Tfh development and function were used to demonstrate that T-bet, CD40, CD40L, and MHCII mediated protection from RVFV encephalitis, while IFN- and IL-12 were dispensable. (cdc.gov)
  • Figure 5: Nutritional regulation of hepatic gene expression in the absence of Foxo1 alone and in the absence of both Akt and Foxo1. (nature.com)
  • Berry intake changes hepatic gene expression and DNA methylation patterns associated with high-fat diet. (lu.se)
  • To determine its biological function in reproduction, we used Cre (cAMP response element)/LoxP technology to generate GnRH neuron-specific Jak2 conditional knock-out (Jak2 G −/− ) mice. (jneurosci.org)
  • TSC2 deletion in myeloid cells impairs medullary erythropoiesis. (medicalxpress.com)
  • GluA1 gene deletion impairs hippocampus-dependent, spatial working memory, but spares hippocampus-dependent spatial reference memory. (ox.ac.uk)
  • Mood disorders are polygenic disorders in which the alteration of several susceptibility genes results in dysfunctional mood regulation. (nih.gov)
  • Collectively, these findings support a role for the CRTC1-CREB pathway in mood disorders etiology and behavioral response to antidepressants and identify CRTC1 as an essential coactivator of genes involved in mood regulation. (nih.gov)
  • A gene expression analysis revealed that deletion of Akt in liver led to the constitutive activation of Foxo1-dependent gene expression, but again, concomitant ablation of Foxo1 restored postprandial regulation, preventing the inhibition of the metabolic response to nutrient intake caused by deletion of Akt . (nature.com)
  • encoded by Nfe2l2 gene) is a transcription factor responsible for the regulation of cellular redox balance and protective antioxidant and phase II detoxification responses in mammals [ 1 , 2 ]. (springer.com)
  • As CXXC1 is orthologous to Saccharomyces cerevisiae Spp1 that links DSB sites to the DSB machinery on the chromosome axis, we propose that these molecular interactions involved in the regulation of meiotic DSB formation are conserved in mouse meiosis. (springer.com)
  • and report here a role for the Jak2 signaling molecule in the regulation of reproductive development and function in female mice. (jneurosci.org)
  • The phenotype (main outward appearance) of the mouse is a lack of body hair, which gives it the "nude" nickname. (wikipedia.org)
  • Mice with a targeted deletion in the FOXN1 ("knockout" mice) also show the "nude" phenotype. (wikipedia.org)
  • To further evaluate the role of CRTC1 in the brain, we generated a knockout mouse line and analyzed its behavioral and molecular phenotype. (nih.gov)
  • In humans, the STAT3 gene is located on the q arm of chromosome 17. (thermofisher.com)
  • BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a hemizygous deletion of chromosome 17, band p11.2. (bmj.com)
  • Manipulation of mGluR5 activity attenuates excessive grooming and instrumental learning differentially, and rescues impaired striatal synaptic plasticity in Δe4-22(-/-) mice. (duke.edu)
  • The development of tools to manipulate the mouse genome, including knockout and transgenic technology, has revolutionized our ability to explore gene function in mammals. (elifesciences.org)
  • This manuscript reports data consistent with a new and unanticipated phenomenon: that Cre or its mRNA may be transmitted between tissues in the mouse and that the male reproductive tract (epididymis) appears to be the most common target of such transported molecules. (elifesciences.org)
  • The requirement of Sin1 in cell survival, and in particular in neuronal survival, has not been established due to the early embryonic lethality of mice with a targeted deletion of the Sin1 gene. (bl.uk)
  • The multifunctional regulator nuclear factor erythroid 2-related factor (Nrf2) is considered not only as a cytoprotective factor regulating the expression of genes coding for anti-oxidant, anti-inflammatory and detoxifying proteins, but it is also a powerful modulator of species longevity. (springer.com)
  • The major characteristics of Nrf2 are to some extent mimicked by Nrf2-dependent genes and their proteins including heme oxygenase-1 (HO-1), which besides removing toxic heme, produces biliverdin, iron ions and carbon monoxide. (springer.com)
  • Most strains of nude mice are slightly "leaky" and do have a few T cells, especially as they age. (wikipedia.org)
  • 2009 ). Strikingly, two congenic mouse strains in which the Prdm9 alleles have different zinc finger arrays show completely distinct sets of hotspots (Brick et al. (springer.com)
  • Virus-specific antibody responses correlated with protection from encephalitis in all mouse strains, suggesting that Tfh-B cell interactions modulate clinical outcome in this model. (cdc.gov)
  • SMS is considered a contiguous gene deletion syndrome 1 and 95% of patients harbour a common deletion of approximately 5 Mb. (bmj.com)
  • Crtc1(-/-) mice strikingly show, in addition to a reduced dopamine and serotonin turnover in the prefrontal cortex, a concomitant decreased expression of several susceptibility genes involved in neuroplasticity, including Bdnf, its receptor TrkB, the nuclear receptors Nr4a1-3, and several other CREB-regulated genes. (nih.gov)
  • The laboratory of Stephen Scherer recently uncovered preliminary findings that identify the PTCHD1 -antisense (AS) long noncoding RNA (lncRNA) gene, present on the X chromosome, as a bona fide susceptibility locus for ASD. (sfari.org)
  • In addition, knockout mice with more complete defects in the immune system have been constructed (e.g. (wikipedia.org)
  • These defects were normalized with concomitant liver-specific deletion of Foxo1 . (nature.com)
  • At present, specific gene defects have been identified for 3 subtypes of PFIC (see Table 1 below). (medscape.com)
  • Here we show that mice with hepatic deletion of Akt1 and Akt2 were glucose intolerant, insulin resistant and defective in their transcriptional response to feeding in the liver. (nature.com)
  • Notably, in the absence of both Akt and Foxo1, mice adapted appropriately to both the fasted and fed state, and insulin suppressed hepatic glucose production normally. (nature.com)
  • Figure 2: Aberrant insulin signaling and disrupted expression of Foxo1-regulated genes in DLKO but not 2LKO livers. (nature.com)
  • Figure 3: Deletion of both Akt1 and Akt2 in liver results in hyperglycemia, glucose intolerance and insulin resistance. (nature.com)
  • Figure 4: Deletion of Foxo1 normalizes hyperglycemia, glucose intolerance and hyperinsulinemia in DLKO livers despite defective insulin signaling. (nature.com)
  • We demonstrate DBD in a mouse model that harbors hepatic-specific insulin receptor substrate 1 and 2 deletions (double knockout [DKO]), which develops type 2 diabetes. (harvard.edu)
  • Scholars@Duke publication: Smoothelin-like 1 deletion enhances myogenic reactivity of mesenteric arteries with alterations in PKC and myosin phosphatase signaling. (duke.edu)
  • To create intestinal epithelial cell ILK knockout animals, Fabp/Cre mice (Cre recombinase expressed under the control of a modified Fabp promoter) were used, and they were mated with mice carrying a loxP-flanked (floxed) ILK gene (ILK flox/flox ). (bmj.com)
  • However, it has much broader effects mediated by genomic (vitamin D directly or indirectly influences expression of up to 2,000 genes) as well as non-genomic mechanisms [ 1 ]. (karger.com)
  • We found that mice lacking CRTC1 associate neurobehavioral endophenotypes related to mood disorders. (nih.gov)
  • Since changes in reproductive hormone levels can also increase the probability of anxiety disorders in women, we examined the effects of ELA on adult female mice across the estrous cycle. (researchgate.net)
  • Table 1 provides a summary outline of the gene symbols, chromosomal locations, radiation sensitivity characteristics, immunodeficiencies, chromosome breakage characteristics, and major cancer risk for each of these disorders. (medscape.com)
  • Most of the genes in these disorders were identified because of searches for the disorders based on either the consequences or causes of the symptoms. (medscape.com)
  • In addition, an excess of oxidative free radicals also increases the expression of proinflammatory genes and activates the inflammation process [ 18 , 19 ]. (hindawi.com)
  • In an animal model of PFIC3, Abcb4 (Mdr2) knockout mice cannot excrete phospholipid into bile and develop progressive liver disease characterized by portal inflammation, proliferation of bile ducts, and fibrosis. (medscape.com)
  • However, the changes in gene expression that underlie these biological changes are poorly understood. (noiseandhealth.org)
  • Changes in gene expression form the basis for important biological processes, including repair, regeneration, and plasticity. (noiseandhealth.org)
  • In conclusion, our results demonstrate that the attenuation of EAE seen following CD44 gene deletion in mice may result from alterations in the gut microbiota and SCFAs. (listlabs.com)
  • In CKD patients or obstructive mice model, we observed that Plk1, a critical mitotic regulator, was upregulated in kidneys. (nature.com)
  • Jessica Fowler and colleagues made a mouse model lacking the immunoglobulin recombination enzyme, RAG-2. (biologists.com)
  • The hypothesis that epithelial cell-specific deletion of ILK would impact on murine tumourigenesis was tested using a colitis-associated cancer model. (bmj.com)
  • This leads to its translocation to the nucleus and the subsequent activation of hypertrophy-associated genes. (bmj.com)
  • Mice with a heart-specific deletion of cdc42 developed greater levels of hypertrophy than wild-type controls under neuroendocrine stress, and also transitioned more quickly into heart failure. (bmj.com)
  • These mice have reduced glycogen stores in adipose tissue, liver, heart, and skeletal muscle, corresponding with decreased glycogen synthase activity and glycogen synthesis rate. (jci.org)
  • Figure 1: Liver-specific deletion of Akt1 in Akt2 whole-body knockout mice resulted in severe hyperglycemia and the disruption of Foxo1-regulated gene expression. (nature.com)
  • Deletion of GAT2 reduced liver taurine levels by 50%, without affecting the expression of the taurine transporter TAUT. (knowledgearc.net)
  • Cdc42 is an antihypertrophic molecular switch in the mouse heart. (bmj.com)
  • PrP is highly conserved through mammals, lending credence to application of conclusions from test animals such as mice. (wikidoc.org)
  • We are therefore using a battery of molecular approaches to identify and compare changes in gene expression following noise trauma in birds and mammals. (noiseandhealth.org)
  • Vitamin D is a hormone regulating not only calcium and phosphate homeostasis but also, at the same time, exerting many other extraskeletal functions via genomic effects (gene transcription) and probably by non-genomic effects as well. (karger.com)
  • Growth retardation and increased apoptosis in mice with homozygous disruption of the Akt1 gene. (nature.com)
  • Systemic deletion of the Rlim gene results in lower numbers of mature sperm that contains excess cytoplasm, leading to decreased sperm motility and in vitro fertilization rates. (umass.edu)
  • In female incontinentia pigmenti patients, lyonization results in functional mosaicism of X-linked genes, which is manifested by the blaschkoid distribution of cutaneous lesions. (medscape.com)
  • The nude mouse is valuable to research because it can receive many different types of tissue and tumor grafts, as it mounts no rejection response. (wikipedia.org)
  • Inoculation of RAG-2 null mice with multiple myeloma cells causes tumor formation in the bone marrow and osteolytic bone disease, similar to human patients. (biologists.com)
  • The tumor necrosis factor (TNF) superfamily genes were upregulated in DKO bladders. (harvard.edu)
  • It is now well-established that the hippocampal CA2 region plays an important role in social recognition memory in adult mice. (researchgate.net)
  • The CA2 is also important for the earliest social memories, including those that mice have for their mothers and littermates, which manifest themselves as a social preference for familiarity over novelty. (researchgate.net)
  • Based on these findings, we conclude that deletion of SMTNL1 contributes to enhancement of pressure-induced contractility of mesenteric resistance vessels by influencing the activity of myosin phosphatase. (duke.edu)
  • Nrf2 stabilization and increase in its half-life even to 200 min [ 9 ] allows nuclear translocation and activation of transcription of cytoprotective genes (Fig. 1 ). (springer.com)
  • Crtc1(-/-) mice exhibit impulsive aggressiveness, social withdrawal, and decreased sexual motivation, together with increased behavioral despair, anhedonia, and anxiety-related behavior in the novelty-induced hypophagia test. (nih.gov)
  • The X-linked gene Rlim plays major roles in female mouse development and reproduction, where it is crucial for the maintenance of imprinted X chromosome inactivation in extraembryonic tissues of embryos. (umass.edu)
  • Objective - Both the apolipoprotein A5 and C3 genes have repeatedly been shown to play an important role in determining plasma triglyceride concentrations in humans and mice. (doe.gov)
  • Sequence analysis of these genes is being used to identify BRCA1/2 mutation carriers, though these efforts are hampered by the high frequency of variants of unknown clinical significance (VUSs). (jci.org)
  • The discovery of the antioxidant response element (ARE) have led to the conclusion that the battery of genes, including glutamate-cysteine ligase (GCL), thioredoxin reductase 1 (Txnrd1), NAD(P)H-quinone oxidoreductase 1 (NQO1) and heme oxygenase-1 (HMOX1) is regulated through Nrf2 binding to this consensus binding sequence [ 3 ]. (springer.com)
  • Inhibition of proprotein convertase SKI-1 blocks transcription of key extracellular matrix genes regulating osteoblastic mineralization. (nih.gov)
  • Additionally, we observed altered contractile responses of isolated arteries from SMTNL1 KO mice to phenylephrine, KCl-dependent membrane depolarization and phorbol 12,13-dibutyrate (PDBu). (duke.edu)
  • Originally they were described as nu and this was updated to Hfh11nu when the mutated gene was identified as a mutation in the HNF-3/forkhead homolog 11 gene. (wikipedia.org)
  • Female Jak2 G −/− mice exhibited significantly delayed puberty and first estrus, abnormal estrous cyclicity, and impaired fertility. (jneurosci.org)