Search Results - "McKiernan, J"

Evolving Trends in Liver Transplant for Metabolic Liver Disease in the United States by McKiernan, Patrick J., Ganoza, Armando, Squires, James E., Squires, Robert H., Vockley, Jerry, Mazariegos, George, Soltys, Kyle, Sun, Qing, Sindhi, Rakesh

“…Indications for liver transplantation (LT) in metabolic disease are evolving. We reviewed the US experience with primary LT for metabolic disease in the…”
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Nitisinone in the treatment of hereditary tyrosinaemia type 1 by MCKIERNAN, Patrick J

“…Hereditary tyrosinaemia type 1 (HT-1) is a rare genetic disease caused by mutations in the gene for the enzyme fumarylacetoacetase. It usually presents with…”
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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome by Sentner, Christiaan P., Hoogeveen, Irene J., Weinstein, David A., Santer, René, Murphy, Elaine, McKiernan, Patrick J., Steuerwald, Ulrike, Beauchamp, Nicholas J., Taybert, Joanna, Laforêt, Pascal, Petit, François M., Hubert, Aurélie, Labrune, Philippe, Smit, G. Peter A., Derks, Terry G. J.

“…Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and…”
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Living Related Liver Transplantation for Metabolic Liver Diseases in Children by Sood, Vikrant, Squires, James E., Mazariegos, George V., Vockley, Jerry, McKiernan, Patrick J.

“…ABSTRACT Metabolic liver diseases (MLDs) are a heterogeneous group of inherited conditions for which liver transplantation can provide definitive treatment…”
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Long noncoding RNA are aberrantly expressed in vivo in the cystic fibrosis bronchial epithelium by McKiernan, Paul J., Molloy, Kevin, Cryan, Sally A., McElvaney, Noel G., Greene, Catherine M.

“…Long non-coding RNAs (lncRNAs) have emerged recently as key regulatory molecules with diverse roles at almost every level of the regulation of gene expression…”
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MicroRNA Dysregulation in Cystic Fibrosis by McKiernan, Paul J., Greene, Catherine M.

“…The cystic fibrosis lung is a complex milieu comprising multiple factors that coordinate its physiology. MicroRNAs are regulatory factors involved in most…”
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Electrochemotherapy for the treatment of primary basal cell carcinoma; A randomised control trial comparing electrochemotherapy and surgery with five year follow up by Clover, A.J.P., Salwa, S.P., Bourke, M.G., McKiernan, J., Forde, P.F., O'Sullivan, S.T., Kelly, E.J., Soden, D.M.

“…Basal cell carcinoma (BCC) are the commonest cutaneous malignancy and incidence continues to increase. There is a need to expand the therapeutic toolbox to…”
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Survival of children after liver transplantation for hepatocellular carcinoma by Baumann, Ulrich, Adam, René, Duvoux, Christophe, Mikolajczyk, Rafael, Karam, Vincent, D'Antiga, Lorenzo, Chardot, Christophe, Coker, Ahmet, Colledan, Michele, Ericzon, Bo‐Goran, Line, Pål Dag, Hadzic, Nedim, Isoniemi, Helena, Klempnauer, Jürgen L., Reding, Raymond, McKiernan, Patrick J., McLin, Valérie, Paul, Andreas, Salizzoni, Mauro, Furtado, Emanuel San Bento, Schneeberger, Stefan, Karch, André

“…Hepatocellular carcinoma (HCC) in childhood differs from adult HCC because it is often associated with inherited liver disease. It is, however, unclear whether…”
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The frequency and outcome of biliary atresia in the UK and Ireland by McKiernan, Patrick J, Baker, Alastair J, Kelly, Deirdre A

“…Biliary atresia is an obliterative cholangiopathy of infancy that is fatal if untreated. Surgical treatment, the Kasai portoenterostomy, may restore bile flow…”
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Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations by Kapoor, R. R., Flanagan, S. E., James, C. T., McKiernan, J., Thomas, A. M., Harmer, S. C., Shield, J. P., Tinker, A., Ellard, S., Hussain, K.

“…Aims/hypothesis Dominantly acting loss-of-function mutations in the ABCC8/KCNJ11 genes can cause mild medically responsive hyperinsulinaemic hypoglycaemia…”
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Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls by van Ginkel, Willem G, Jahja, Rianne, Huijbregts, Stephan C J, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Cassiman, David, Eyskens, François, Körver-Keularts, Irene M L W, Goyens, Philippe J, McKiernan, Patrick J, van Spronsen, Francjan J

“…Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic…”
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miR-224-5p and miR-545-5p Levels Relate to Exacerbations and Lung Function in a Pilot Study of X-Linked MicroRNA Expression in Cystic Fibrosis Monocytes by McKiernan, Paul J., Molloy, Kevin P., Glasgow, Arlene M. A., McElvaney, Noel G., Greene, Catherine M.

“…Altered microRNA expression patterns in bronchial brushings from people with versus without cystic fibrosis (CF) relate to functional changes and disease…”
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Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients by van Vliet, Kimber, van Ginkel, Willem G, Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M, Gissen, Paul, Goyens, Philippe J, McKiernan, Patrick J, Wilcox, Gisela, Morris, Andrew A M, Jameson, Elisabeth A, Huijbregts, Stephan C J, van Spronsen, Francjan J

“…Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and…”
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SLPI and inflammatory lung disease in females by McKiernan, Paul J, McElvaney, Noel G, Greene, Catherine M

“…During the course of certain inflammatory lung diseases, SLPI (secretory leucoprotease inhibitor) plays a number of important roles. As a serine antiprotease…”
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Progressive histological damage in liver allografts following pediatric liver transplantation by EVANS, Helen M, KELLY, Deirdre A, MCKIERNAN, Patrick J, HÜBSCHER, Stefan

“…The long-term histological outcome after pediatric liver transplantation (OLT) is not yet fully understood. De novo autoimmune hepatitis, consisting of…”
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The Estrogen-Induced miR-19 Downregulates Secretory Leucoprotease Inhibitor Expression in Monocytes by McKiernan, Paul J., Smith, Stephen G.J., Durham, Andrew L., Adcock, Ian M., McElvaney, Noel G., Greene, Catherine M.

“…Compared to females, males are more susceptible to acute viral and other respiratory tract infections that display greater severity and higher mortality. In…”
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Guidelines for liver transplantation for patients with non-alcoholic steatohepatitis by Newsome, Philip Noel, Allison, M E, Andrews, P A, Auzinger, G, Day, C P, Ferguson, J W, Henriksen, P A, Hubscher, S G, Manley, H, McKiernan, P J, Millson, C, Mirza, D, Neuberger, J M, Oben, J, Pollard, S, Simpson, K J, Thorburn, D, Tomlinson, J W, Wyatt, J S

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POLG mutations in Alpers syndrome by NGUYEN, K. V, OSTERGAARD, E, HOIST RAVN, S, BALSLEV, T, RUBAEK DANIELSEN, E, VARDAG, A, MCKIERNAN, P. J, GRAY, G, NAVIAUX, R. K

“…Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1)…”
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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome by Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A

“…ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular…”
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Poly(2,7-dibenzosilole):  A Blue Light Emitting Polymer by Chan, Khai Leok, McKiernan, Mary J, Towns, Carl R, Holmes, Andrew B

“…2,7-Disubstituted dibenzosilole monomers have been prepared by the selective trans-lithiation of 4,4‘-dibromo-2,2‘-diiodobiphenyl followed by silylation with…”
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