Results 81 to 90 of about 6,631 (231)

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK [PDF]

, 2017
BACKGROUND: Whilst still rare, the incidence of paediatric stone disease is increasing in developed countries and it is important to evaluate the aetiology.
Bockenhauer, D, Dufek, S, Issler, N, Kleta, R, Smeulders, N, Van't Hoff, W   +5 more
core   +1 more source

Meta-analysis of genome-wide association studies of anxiety disorders. [PDF]

, 2016
Anxiety disorders (ADs), namely generalized AD, panic disorder and phobias, are common, etiologically complex conditions with a partially genetic basis.
Adkins, D., Aggen, S.H., Bigdeli, T., Boomsma, D., Byrne, E.M., Castelao, E., der Auwera, S.V., Direk, N., Fanous, A., Gordon, S., Grabe, H.J., Hartman, C.A., Heath, A.C., Hek, K., Henders, A.K., Hettema, J.M., Hofman, A., Homuth, G., Hottenga, J.J., Keller, M.C., Kutalik, Z., Lee, M., Madden, P.A., Maher, B.S., Martin, N.G., Medland, S.E., Middeldorp, C.M., Milaneschi, Y., Mirza, S.S., Montgomery, G., Mulder, C.L., Nauck, M., Nivard, M.G., Nolte, I.M., Oldehinkel, A.J., Otowa, T., Penninx, B.W., Pergadia, M.L., Preisig, M., Teumer, A., Tiemeier, H., Uitterlinden, A., van den Oord, E.J., van der Most, P.J., van Oort, F.V., Wolen, A., Wray, N.R.   +46 more
core   +2 more sources

Electroanalytical Overview: Screen‐Printed Electrochemical Sensing Platforms

ChemElectroChem, Volume 11, Issue 19, October 1, 2024.
In our paper we overview the use of screen‐printed electrode focusing on metallic and bulk modified varieties, geometric changes (micro, microband and associated arrays), electrode activation and finally the physical length of screen‐printed electrodes, providing insights for future research.
Robert D. Crapnell, Craig E. Banks
wiley   +1 more source

Inherited epithelial transporter disorders—an overview [PDF]

, 2018
Summary: In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human ...
Bergeron, M., Bürzle, M., Hediger, M., Simonin, A.   +3 more
core  

Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability [PDF]

, 2001
Although it was originally believed that thyroid hormones enter target cells by passive diffusion, it is now clear that cellular uptake is effected by carrier-mediated processes.
Docter, R. (Roel), Friesema, E.C.H. (Edith), Hennemann, G. (George), Jong, M. (Marion) de, Krenning, E.P. (Eric), Visser, T.J. (Theo)   +5 more
core   +3 more sources

Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel

Prenatal Diagnosis, Volume 44, Issue 11, Page 1335-1343, October 2024.
Abstract Objective This study aimed to evaluate the yield and applicability of expanded carrier screening and propose carrier rate screening thresholds suitable for the Chinese population by comparing the current screening panel with the American College of Medical Genetics and Genomics recommended panel of 113 genes.
Sha Liu, Shuang Huang, Victor Wei Zhang, Liyuan Cao, Haipeng Liu, Xiang Wei, Yuan Luo, Yue Li, Lin Zhou, Fuping Li, Qian Zhu, Hongqian Liu   +11 more
wiley   +1 more source

PROPHYLAXIA OF CYSTINE CALCULOSIS BY α-MERCAPTOPROPIONYLGLYCINE ADMINISTERED CONTINUOUSLY OR EVERY OTHER DAY

Journal of Biological Research
Cystinuria is a complex autosomal recessive inherited disorder found in approximately one out of 7000 births. The disease affects the renal tubular reabsorption of certain filtered amino acids, i.e., cystine, lysine, arginine and ornithine. Owing to the
A. Berio, A. Piazzi
doaj   +1 more source

Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement [PDF]

, 2016
Background: Recently published guidelines on the medical management of renal stone disease did not address relevant topics in the field of idiopathic calcium nephrolithiasis, which are important also for clinical research.
Bartoletti, R., Buchholz, N., Buchholz, N.N.-P. (Noor), Bushinsky, D., Bushinsky, D. (David), Capasso, G.B., Cicerello, E., Coe, F., Coe, F. (Fredric), Croppi, E. (Emanuele), Cupisti, A., Curhan, G.C., Curhan, G.C. (Gary C.), Desai, J., Fabris, A., Ferraro, P.M., Ferraro, P.M. (Pietro Manuel), Fuster, D., Fuster, D. (Daniel), Gambaro, G., Gambaro, G. (Giovanni), Goldfarb, D.S., Goldfarb, D.S. (David S.), Heilberg, I.P., Heilberg, I.P. (Ita Pfeferman), Hess, B., Hess, B. (Bernhard), Jaeger, P. (Ph), Kirkali, Z. (Ziya), Kok, D.J. (Dirk), Letavernier, E., Lieske, J., Lieske, J. (John), Lingeman, J., Lingeman, J. (James), Marangella, M., Marangella, M. (Martino), Mazzaferro, S., Milliner, D., Milliner, D. (Dawn), Moe, O., Moe, O. (Orson), Nouvenne, A., Preminger, G.M., Preminger, G.M. (Glen M.), Prie, D., Reis Santos, J., Reis Santos, J.M. (Jose’ Manuel), Rendina, D., Sakhaee, K. (Khashayar), Sarica, K., Sarica, K. (Kemal), Siener, R., Siener, R. (Roswitha), Soldati, L., Strazzullo, P., Strazzullo, P. (Pasquale), Tasca, A., Trinchieri, A., Vezzoli, G., Vitale, C., Williams, J.C., Williams, J.C. (James C.), Worcester, E., Worcester, E. (Elen), Wu, W.   +65 more
core   +3 more sources

Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 841-859, September 2024.
Abstract This review summarises progress in the research of homocystinuria (HCU) in the past three decades. HCU due to cystathionine β‐synthase (CBS) was discovered in 1962, and Prof. Jan Peter Kraus summarised developments in the field in the first‐ever Komrower lecture in 1993. In the past three decades, significant advancements have been achieved in
Viktor Kožich, Tomas Majtan
wiley   +1 more source

The impact of surgical intervention on renal function in cystinuria

Brazilian Journal of Nephrology, 2018
Introduction: Cystinuria is an autosomal recessive disorder due to intestinal and renal transport defects in cystine and dibasic amino acids, which result in recurrent urolithiasis and surgical interventions.
Serra Sürmeli Döven, Ali Delibaş, Hakan Taşkınlar, Ali Naycı   +3 more
doaj   +1 more source