| Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1. | Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1.
Jung J, Wu Q., Free PMC Article | 05/7/2024 |
| A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. | A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis.
Mohammed J, Arora N, Matthews HS, Hansen K, Bader M, Walsh S, Shaffer JR, Weinberg SM, Swigut T, Claes P, Selleri L, Wysocka J., Free PMC Article | 03/18/2024 |
| Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China. | Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.
Yan L, Cao J, Zhang Y, Liu Y, Zou J, Lou B, Zhuang D, Li H., Free PMC Article | 09/7/2023 |
| The prevalence and phenotypic range associated with biallelic PKDCC variants. | The prevalence and phenotypic range associated with biallelic PKDCC variants.
Pagnamenta AT, Belles RS, Salbert BA, Wentzensen IM, Guillen Sacoto MJ, Santos FJR, Caffo A, Ferla M, Banos-Pinero B, Pawliczak K, Makvand M, Najmabadi H, Genomics England Research Consortium, Maroofian R, Lester T, Yanez-Felix AL, Villarroel-Cortes CE, Xia F, Al Fayez K, Al Hashem A, Shears D, Irving M, Offiah AC, Kariminejad A, Taylor JC., Free PMC Article | 06/7/2023 |
| The secreted tyrosine kinase VLK is essential for normal platelet activation and thrombus formation. | The secreted tyrosine kinase VLK is essential for normal platelet activation and thrombus formation.
Revollo L, Merrill-Skoloff G, De Ceunynck K, Dilks JR, Guo S, Bordoli MR, Peters CG, Noetzli L, Ionescu A, Rosen V, Italiano JE, Whitman M, Flaumenhaft R., Free PMC Article | 02/26/2022 |
| Taken together, these results suggest that Vlk may function as a signaling regulator in extracellular space to modulate the Hedgehog pathway | Secreted tyrosine kinase Vlk negatively regulates Hedgehog signaling by inducing lysosomal degradation of Smoothened.
Kim JM, Han H, Bahn M, Hur Y, Yeo CY, Kim DW. | 07/18/2020 |
| Each patient had a homozygous gene disrupting variant in PKDCC considered to explain the skeletal phenotypes shared by both. | Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.
Sajan SA, Ganesh J, Shinde DN, Powis Z, Scarano MI, Stone J, Winter S, Tang S. | 07/4/2020 |
| VLK secretion can be regulated by external cues, intracellular signal proteins, and mechanical stretch, and VLK can in turn regulate TyrP of ECM proteins secreted by trabecular meshwork cells and control cell shape, actin stress fibers, and focal adhesions. | Vertebrate Lonesome Kinase Regulated Extracellular Matrix Protein Phosphorylation, Cell Shape, and Adhesion in Trabecular Meshwork Cells.
Maddala R, Skiba NP, Rao PV., Free PMC Article | 08/12/2017 |
| The Fam20C-and VLK-family of kinases mediate the phosphorylation of proteins in the secretory pathway and extracellular space.Mutation in several secretory pathway kinases cause human disease | The secretory pathway kinases.
Sreelatha A, Kinch LN, Tagliabracci VS., Free PMC Article | 12/12/2015 |
| VLK is rapidly and quantitatively secreted from platelets in response to stimuli and can tyrosine phosphorylate coreleased proteins utilizing endogenous as well as exogenous ATP sources. | A secreted tyrosine kinase acts in the extracellular environment.
Bordoli MR, Yum J, Breitkopf SB, Thon JN, Italiano JE Jr, Xiao J, Worby C, Wong SK, Lin G, Edenius M, Keller TL, Asara JM, Dixon JE, Yeo CY, Whitman M., Free PMC Article | 01/31/2015 |
| our results suggest that genes CA10 and also SGK493 may be an important risk factor for asthma development, especially for a nonatopic phenotype. | Polymorphisms in recent GWA identified asthma genes CA10, SGK493, and CTNNA3 are associated with disease severity and treatment response in childhood asthma.
Perin P, Potočnik U. | 04/12/2014 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).
Castro-Giner F, Bustamante M, Ramon González J, Kogevinas M, Jarvis D, Heinrich J, Antó JM, Wjst M, Estivill X, de Cid R., Free PMC Article | 01/20/2010 |