Publications by authors named "Dagan Jenkins"

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Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery.
Tina Beyer, Gaurav D Diwan, Tobias Leonhard, Katrin Dahlke, Franziska Klose, Dagan Jenkins

Mol Cell Proteomics· March 2025

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How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?
Dagan Jenkins

Philos Trans R Soc Lond B Biol Sci· April 2024

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Stochastic processes in development and disease.
Dagan Jenkins, Jonathan R Chubb, Gabriel Galea

Philos Trans R Soc Lond B Biol Sci· April 2024

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Structure and tethering mechanism of dynein-2 intermediate chains in intraflagellar transport.
Aakash G Mukhopadhyay, Katerina Toropova, Lydia Daly, Jennifer N Wells, Laura Vuolo, Dagan Jenkins

EMBO J· April 2024

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Affinity Purification of Intraflagellar Transport (IFT) Proteins in Mice Using Endogenous Streptavidin/FLAG Tags.
Tina Beyer, Tiago Martins, Jeshmi Jeyabalan Srikaran, Marian Seda, Emma Peskett, Dagan Jenkins

Methods Mol Biol· November 2023

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De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of .
Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, Tina Beyer, Marian Seda, Dagan Jenkins

Cells· November 2023

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A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis.
Marian Seda, Berta Crespo, Michelangelo Corcelli, Daniel P Osborn, Dagan Jenkins

Sci Rep· April 2023

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Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.
Wai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, Haibing Yue, Jacob Shujui Hsu, Dagan Jenkins

EBioMedicine· September 2021

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Generating Mutant Renal Cell Lines Using CRISPR Technologies.
Nuria Perretta-Tejedor, Grace Freke, Marian Seda, David A Long, Dagan Jenkins

Methods Mol Biol· December 2020

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Andreea Manole, Stephanie Efthymiou, Emer O'Connor, Marisa I Mendes, Matthew Jennings, Dagan Jenkins

Am J Hum Genet· August 2020

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Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Dale Bryant, Marian Seda, Emma Peskett, Constance Maurer, Gideon Pomeranz, Dagan Jenkins

Sci Rep· August 2020

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Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene in skeletal cell lineages.
Marian Seda, Emma Peskett, Charalambos Demetriou, Dale Bryant, Gudrun E Moore, Dagan Jenkins

F1000Res· June 2020

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An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.
Marian Seda, Maartje Geerlings, Peggy Lim, Jeshmi Jeyabalan-Srikaran, Ann-Christin Cichon, Dagan Jenkins

Mol Syndromol· February 2019

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SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Marian Seda, Dagan Jenkins

Hum Mol Genet· June 2018

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Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.
Michael Taschner, Anna Lorentzen, André Mourão, Toby Collins, Grace M Freke, Dagan Jenkins

Elife· April 2018

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COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
Mustafa M Munye, Anna Diaz-Font, Louise Ocaka, Maiken L Henriksen, Melissa Lees, Dagan Jenkins

PLoS Genet· March 2017

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Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.
Victoria H McKay, Leila L Touil, Dagan Jenkins, Adel Y Fattah

Arch Dis Child· September 2016

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T Nguyen, Dagan Jenkins

Nat Commun· May 2016

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Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Anna C Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins

Am J Hum Genet· November 2014

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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sérgio B Sousa, Dagan Jenkins, Estelle Chanudet, Guergana Tasseva, Miho Ishida

Nat Genet· January 2014

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Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
Victor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, Helen May-Simera, Dagan Jenkins

Hum Mol Genet· October 2013

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Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
Stephen R F Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E Elçioglu, Christopher D O Cooper

Am J Hum Genet· November 2012

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Putative roles of cilia in polycystic kidney disease.
Paul Winyard, Dagan Jenkins

Biochim Biophys Acta· October 2011

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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, Maria Kirchhoff, Flemming Skovby

Eur J Hum Genet· July 2011

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Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elcioglu, Michael T Gabbett

Hum Mutat· April 2011

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