D. Jenkins

发表

Putative roles of cilia in polycystic kidney disease.

P. Winyard, D. Jenkins, 2011, Biochimica et biophysica acta.

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Dian Donnai, Dominik Seelow, Elizabeth Sweeney, 2007, American journal of human genetics.

Uroplakins: new molecular players in the biology of urinary tract malformations.

A. Woolf, D. Jenkins, A. S. Woolf, 2007, Kidney international.

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

D. Jenkins, P. Stanier, G. Moore, 2019, F1000Research.

Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4

A. Woolf, D. Jenkins, X. Caubit, 2008, Development.

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

Thomas A. Hawkins, M. Bitner-Glindzicz, J. Rihel, 2019, Scientific Reports.

Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis

D. Jenkins, E. Lorentzen, J. Basquin, 2018, eLife.

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

S. Gallati, L. Biesecker, J. Hurst, 2011, European Journal of Human Genetics.

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

J. Hurst, A. Wilkie, D. Jenkins, 2011, Human mutation.

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

P. Sham, P. Tam, D. Jenkins, 2021, EBioMedicine.

Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development

A. Woolf, P. Winyard, D. Jenkins, 2007, Journal of anatomy.

Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction.

Z. Gucev, V. Tasic, A. Woolf, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Explorer An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Teunis J. P. van Dam, T. Gibson, M. Huynen, 2016 .

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

M. Knight, H. May-Simera, P. Beales, 2013, Human molecular genetics.

Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation

M. Knight, H. May-Simera, D. Jenkins, 2012, Cilia.

An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis

P. Scambler, P. Beales, D. Jenkins, 2018, Molecular Syndromology.

Mutation analyses of Uroplakin II in children with renal tract malformations.

M. Bitner-Glindzicz, J. Southgate, A. Woolf, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis

D. Jenkins, M. Seda, M. Corcelli, 2022, bioRxiv.

Development of the kidney.

A. Woolf, D. Jenkins, A. S. Woolf, 2014 .

Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype

S. Scherer, J. Malvehy, S. Puig, 2019, bioRxiv.

Genes and Mechanisms in Human Ciliopathies

P. Beales, D. Jenkins, 2013 .

Hedgehog signalling: emerging evidence for non-canonical pathways.

D. Jenkins, 2009, Cellular signalling.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

M. Bitner-Glindzicz, F. Baas, H. Williams, 2014, American journal of human genetics.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

M. Bitner-Glindzicz, D. Jenkins, P. Clayton, 2018, Human molecular genetics.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

M. Ryten, R. Scott, P. Beales, 2013, Nature Genetics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.

A. Zinn, M. Bitner-Glindzicz, S. Ellard, 2007, Journal of pediatric urology.

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

M. Bitner-Glindzicz, T. Sun, A. Woolf, 2005, Journal of the American Society of Nephrology : JASN.

Advances in the understanding of the BBSome complex structure and function

D. Jenkins, Victor Hernandez-Hernandez, 2015 .

University of Huddersfield Repository Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization identify

S. Knight, P. Beales, B. Keavney, 2022 .

Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

H. Peeters, M. Bitner-Glindzicz, R. Hennekam, 2011, Nature Genetics.

COLEC10 is mutated in 3MC patients and regulates early craniofacial development

P. Beales, D. Jenkins, J. Morton, 2017, PLoS genetics.

Ciliopathy-associated missense mutations in IFT140 are hypomorphic and have edgetic effects on protein interaction networks

S. Bolz, M. Ueffing, K. Boldt, 2023, bioRxiv.

Managing the child with a diagnosis of Moebius syndrome: more than meets the eye

D. Jenkins, A. Fattah, L. Touil, 2016, Archives of Disease in Childhood.

Hedgehog Signaling in Development and Disease

D. Jenkins, 2016 .

A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis

D. Jenkins, M. Seda, M. Corcelli, 2018, bioRxiv.

A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B, located within the Turner syndrome critical interval, causes idiopathic scoliosis

D. Jenkins, M. Seda, Daniel P. S. Osborn, 2018 .

The genetics of human renal tract malformations

D. Jenkins, 2006 .

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

J. Goodship, S. Twigg, S. McGowan, 2012, American journal of human genetics.

De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1

K. Boldt, D. Jenkins, E. Peskett, 2023, bioRxiv.

An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis

P. Scambler, P. Beales, D. Jenkins, 2018, Molecular Syndromology.