Search Results - "Hartley, Jane"

A new version of the HBSC Family Affluence Scale - FAS III: Scottish Qualitative Findings from the International FAS Development Study by Hartley, Jane E. K., Levin, Kate, Currie, Candace

“…A critical review of the Family Affluence Scale (FAS) concluded that FAS II was no longer discriminatory within very rich or very poor countries, where a very…”
Get full text

Biliary atresia by Hartley, Jane L, Dr, Davenport, Mark, Prof, Kelly, Deirdre A, Prof

“…Summary Biliary atresia is a rare disease of infancy, which has changed within 30 years from being fatal to being a disorder for which effective palliative…”
Get full text

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors by Eckard, Sterling C, Rice, Gillian I, Fabre, Alexandre, Badens, Catherine, Gray, Elizabeth E, Hartley, Jane L, Crow, Yanick J, Stetson, Daniel B

“…RIG-I-like receptors are activated by viral and other foreign RNAs. Stetson and colleagues show that the RNA exosome enzyme SKIV2L prevents RIG-I activation by…”
Get full text

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans by Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, Hildebrandt, Friedhelm

“…Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and…”
Get full text

Presuming the influence of the media: teenagers' constructions of gender identity through sexual/romantic relationships and alcohol consumption by Hartley, Jane E K, Wight, Daniel, Hunt, Kate

“…Using empirical data from group discussions and in‐depth interviews with 13 to 15‐year olds in Scotland, this study explores how teenagers’ alcohol drinking…”
Get full text

CARE: The development of an intervention for kinship carers with teenage children by Hartley, Jane EK, McAteer, John, Doi, Larry, Jepson, Ruth

“…The study addresses the needs of Scottish kinship carers of teenage children who have been identified as being in need of extra support. It designs and tests…”
Get full text

Outcome of Solid Organ Transplantation in Patients With Intellectual Disability: A Systematic Literature Review by de Rover, Ingeborg, Orlandini, Lara, Darwish Murad, Sarwa, Polak, Wojciech G, Hartley, Jane, Sharif, Khalid, Sneiders, Dimitri, Hartog, Hermien

“…Access to solid organ transplantation in patients with intellectual disability is associated with health inequities due to concerns about treatment adherence,…”
Get full text

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease by Schmidts, Miriam, Frank, Valeska, Eisenberger, Tobias, al Turki, Saeed, Bizet, Albane A., Antony, Dinu, Rix, Suzanne, Decker, Christian, Bachmann, Nadine, Bald, Martin, Vinke, Tobias, Toenshoff, Burkhard, Di Donato, Natalia, Neuhann, Theresa, Hartley, Jane L., Maher, Eamonn R., Bogdanović, Radovan, Peco-Antić, Amira, Mache, Christoph, Hurles, Matthew E., Joksić, Ivana, Guć-Šćekić, Marija, Dobricic, Jelena, Brankovic-Magic, Mirjana, Bolz, Hanno J., Pazour, Gregory J., Beales, Philip L., Scambler, Peter J., Saunier, Sophie, Mitchison, Hannah M., Bergmann, Carsten

“…ABSTRACT Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is…”
Get full text

IFT80 , which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy by Scambler, Peter J, Beales, Philip L, Bland, Elizabeth, Tobin, Jonathan L, Bacchelli, Chiara, Tuysuz, Beyhan, Hill, Josephine, Rix, Suzanne, Pearson, Chad G, Kai, Masatake, Hartley, Jane, Johnson, Colin, Irving, Melita, Elcioglu, Nursel, Winey, Mark, Tada, Masazumi

“…Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage…”
Get full text

Alagille Syndrome and Other Hereditary Causes of Cholestasis by Hartley, Jane L., MBChB, MRCPCH, MMedSci, PhD, Gissen, Paul, MD, PhD, Kelly, Deirdre A., MD, FRCPI, FRRCP, FRCPCH

“…Neonatal conjugated jaundice is a common presentation of hereditary liver diseases, which, although rare, are important to recognize early. Developments in…”
Get full text

Risky health-related behaviours among school-aged adolescents: a rational 'consumer' choice? by Hartley, Jane E K

“…Within the contemporary culture of consumption, school-aged adolescents, though neither waged nor salaried producers, are nevertheless treated by the media and…”
Get more information

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease by Morgan, Neil V, Hartley, Jane L, Setchell, Kenneth D R, Simpson, Michael A, Brown, Rachel, Tee, Louise, Kirkham, Sian, Pasha, Shanaz, Trembath, Richard C, Maher, Eamonn R, Gissen, Paul, Kelly, Deirdre A

“…Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the…”
Get full text

Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency by Stindt, Jan, Dröge, Carola, Lainka, Elke, Kathemann, Simone, Pfister, Eva-Doreen, Baumann, Ulrich, Stalke, Amelie, Grabhorn, Enke, Shagrani, Mohammad Ali, Mozer-Glassberg, Yael, Hartley, Jane, Wammers, Marianne, Klindt, Caroline, Philippski, Paulina, Liebe, Roman, Herebian, Diran, Mayatepek, Ertan, Berg, Thomas, Schmidt-Choudhury, Anjona, Wiek, Constanze, Hanenberg, Helmut, Luedde, Tom, Keitel, Verena

“…Antibody-induced bile salt export pump deficiency (AIBD) is an acquired form of intrahepatic cholestasis, which may develop following orthotopic liver…”
Get full text

Investigation of Primary Cilia in the Pathogenesis of Biliary Atresia by Hartley, Jane L, O'Callaghan, Christopher, Rossetti, Sandro, Consugar, Mark, Ward, Christopher J, Kelly, Deirdre A, Harris, Peter C

Get full text

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy) by Hartley, Jane Louise, Zachos, Nicholas C, Dawood, Ban, Donowitz, Mark, Forman, Julia, Pollitt, Rodney J, Morgan, Neil V, Tee, Louise, Gissen, Paul, Kahr, Walter H.A, Knisely, Alex S, Watson, Steve, Chitayat, David, Booth, Ian W, Protheroe, Sue, Murphy, Stephen, de Vries, Esther, Kelly, Deirdre A, Maher, Eamonn R

“…Background & Aims Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy,…”
Get full text

Dent's disease complicated by an acute Budd-Chiari syndrome by Platt, Caroline, Jadresic, Lyda, Dudley, Jan, Hartley, Jane L

“…We present the case of a young boy with Dent's disease, identified as having a mutation in the kidney-specific chloride-proton antitransporter CLCN5 during…”
Get full text

Hyaluronic Acid Predicts Hepatic Fibrosis in Children With Hepatic Disease by Hartley, Jane L., Brown, Rachel M., Tybulewicz, Aniela, Hayes, Peter, Wilson, David C., Gillett, Peter, McKiernan, Patrick

“…ABSTRACT Background: Hyaluronic acid (HA) is removed by the liver via sinusoidal cell adhesion molecules. This is impeded in fibrosis, leading to a rise in…”
Get full text

Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma by Blackmore, Laura, Knisely, A.S, Hartley, Jane L, McKay, Kirsten, Gissen, Paul, Marcus, Robert, Shawcross, Debbie L

“…We report a young man presenting with jaundice and severe debilitating intrahepatic cholestasis 7 months before the diagnosis of Hodgkin's lymphoma. Serum…”
Get full text

Steps Forward in the Management of Familial Cholestasis by Hartley, Jane, Baumann, Ulrich

Get full text

Steps Forward in the Management of Familial Cholestasis by Hartley, Jane, Baumann, Ulrich

Get full text