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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. Pagnamenta AT, et al. Clin Genet. 2023 Jul;104(1):121-126. doi: 10.1111/cge.14324. Epub 2023 Mar 10. Clin Genet. 2023. PMID: 36896672 Free PMC article.
PKDCC encodes a component of Hedgehog signalling required for normal chondrogenesis and skeletal development. Although biallelic PKDCC variants have been implicated in rhizomelic shortening of limbs with variable dysmorphic features, this association was based on ju …
PKDCC encodes a component of Hedgehog signalling required for normal chondrogenesis and skeletal development. Although biallelic P …
Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review.
Wang J, Yu H, Zhang X, Zhou X, Tan Y, Li Z, Gu Y, Lin L. Wang J, et al. Mol Genet Genomic Med. 2024 Jun;12(6):e2477. doi: 10.1002/mgg3.2477. Mol Genet Genomic Med. 2024. PMID: 38860479 Free PMC article. Review.
BACKGROUND: The protein kinase domain containing cytoplasmic (PKDCC) gene (OMIM#618821) is associated with bone development. Biallelic variants in the PKDCC gene can cause rhizomelic limb shortening with dysmorphic features. ...CMA was normal, while Trio-WES identif …
BACKGROUND: The protein kinase domain containing cytoplasmic (PKDCC) gene (OMIM#618821) is associated with bone development. Bialleli …
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. Yan L, et al. BMC Med Genomics. 2023 Aug 17;16(1):190. doi: 10.1186/s12920-023-01631-7. BMC Med Genomics. 2023. PMID: 37592254 Free PMC article.
RESULTS: Trio-WES identified two compound heterozygous variants in PKDCC, c.346delC (p.Pro117Argfs*113) and c.994G > T (p.Glu332Ter), inherited from the father and mother, respectively. ...CONCLUSIONS: We reported the first prenatal case of RLSDF caused by PKDCC …
RESULTS: Trio-WES identified two compound heterozygous variants in PKDCC, c.346delC (p.Pro117Argfs*113) and c.994G > T (p.Glu332Te …
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. Sajan SA, et al. J Med Genet. 2019 Dec;56(12):850-854. doi: 10.1136/jmedgenet-2018-105639. Epub 2018 Nov 26. J Med Genet. 2019. PMID: 30478137
Homozygous Pkdcc knockout mice have dysmorphic features and shortened long bones as the most obvious morphological abnormalities. ...CONCLUSIONS: Biallelic gene disrupting variants in PKDCC in humans, just like in mice, cause dysmorphic features and rhizomelic short …
Homozygous Pkdcc knockout mice have dysmorphic features and shortened long bones as the most obvious morphological abnormalities. ... …
The synaptic ectokinase VLK triggers the EphB2-NMDAR interaction to drive injury-induced pain.
Srikanth KD, Elahi H, Chander P, Washburn HR, Hassler S, Mwirigi JM, Kume M, Loucks J, Arjarapu R, Hodge R, He L, Mazhar K, Shiers SI, Sankaranarayanan I, Erdjument-Bromage H, Neubert TA, Dougherty PM, Campbell ZT, Paik R, Price TJ, Dalva MB. Srikanth KD, et al. Science. 2025 Nov 20;390(6775):eadp1007. doi: 10.1126/science.adp1007. Epub 2025 Nov 20. Science. 2025. PMID: 41264708
We find that the presynaptic release of the tyrosine-directed ectokinase, vertebrate lonesome kinase (VLK/Pkdcc), is necessary and sufficient for the direct extracellular interaction between EphB2 and GluN1 at synapses for phosphorylation of the ectodomain of EphB2 and med …
We find that the presynaptic release of the tyrosine-directed ectokinase, vertebrate lonesome kinase (VLK/Pkdcc), is necessary and su …
Short limbs, cleft palate, and delayed formation of flat proliferative chondrocytes in mice with targeted disruption of a putative protein kinase gene, Pkdcc (AW548124).
Imuta Y, Nishioka N, Kiyonari H, Sasaki H. Imuta Y, et al. Dev Dyn. 2009 Jan;238(1):210-22. doi: 10.1002/dvdy.21822. Dev Dyn. 2009. PMID: 19097194 Free article.
Here we show that a putative protein kinase gene, Pkdcc (AW548124), is required for longitudinal bone growth. We originally found Pkdcc expressed in the head organizer, but it is also expressed throughout embryogenesis and in various adult tissues. ...In the long bo …
Here we show that a putative protein kinase gene, Pkdcc (AW548124), is required for longitudinal bone growth. We originally found …
Shared Genetic Architecture between Muscle and Bone: Identification and Functional Implications of EPDR1, PKDCC, and SPTBN1.
Jung J, Wu Q. Jung J, et al. bioRxiv [Preprint]. 2023 May 15:2023.05.14.540743. doi: 10.1101/2023.05.14.540743. bioRxiv. 2023. PMID: 37292779 Free PMC article. Preprint.
Our analysis identified three genes, EPDR1, PKDCC, and SPTBN1, highly expressed in muscle tissue and previously unlinked to bone metabolism. ...SPTBN1 was highly expressed in all 30 tissue types except blood, while PKDCC was highly expressed in all 30 tissue types e …
Our analysis identified three genes, EPDR1, PKDCC, and SPTBN1, highly expressed in muscle tissue and previously unlinked to bone meta …
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. Jung J, et al. PLoS One. 2024 Apr 29;19(4):e0300535. doi: 10.1371/journal.pone.0300535. eCollection 2024. PLoS One. 2024. PMID: 38683846 Free PMC article.
Our analysis identified three genes, EPDR1, PKDCC, and SPTBN1, which are highly expressed in muscle tissue and previously unlinked to bone metabolism. ...SPTBN1 was highly expressed in all 30 tissue types except blood, while PKDCC was highly expressed in all 30 tiss …
Our analysis identified three genes, EPDR1, PKDCC, and SPTBN1, which are highly expressed in muscle tissue and previously unlinked to …
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. Mohammed J, et al. Elife. 2024 Mar 14;13:e82564. doi: 10.7554/eLife.82564. Elife. 2024. PMID: 38483448 Free PMC article.
Using in vitro derived embryonic cell types relevant for human facial morphogenesis, we show that this SNP resides in an enhancer that regulates chondrocytic expression of PKDCC - a gene encoding a tyrosine kinase involved in chondrogenesis and skeletal development. In agr …
Using in vitro derived embryonic cell types relevant for human facial morphogenesis, we show that this SNP resides in an enhancer that regul …
Association between osteoporosis and rotator cuff tears: evidence from causal inference and colocalization analyses.
Liu Y, Zhao R, Huang Z, Li F, Li X, Zhou K, Derwin KA, Zheng X, Cai H, Ma J. Liu Y, et al. Bone Res. 2025 Aug 28;13(1):75. doi: 10.1038/s41413-025-00450-z. Bone Res. 2025. PMID: 40866365 Free PMC article.
A colocalization analysis across multiple datasets identified six candidate loci, including the successfully replicated PKDCC rs12996954 variant, which may help explain the shared genetic basis between osteoporosis and RCTs. ...
A colocalization analysis across multiple datasets identified six candidate loci, including the successfully replicated PKDCC rs12996 …
43 results