Results 41 to 50 of about 7,531,846 (135)

A multispecies approach for comparing sequence evolution of X-linked and autosomal sites in Drosophila [PDF]

, 2008
Population genetics models show that, under certain conditions, the X chromosome is expected to be under more efficient selection than the autosomes.
Vicoso, Beatriz, Haddrill, Penelope R, Charlesworth, Brian, Haddrill, Penelope R.   +3 more
core   +3 more sources

Investigation of an atypical protoporphyric family in South Africa [PDF]

, 2010
Includes bibliographical references (leaves 171-184).Affected members of the family investigated in this dissertation presented with photosensitivity and raised red cell protoporphyrin concentrations, indicative of protoporphyria.
Haumann, Carel Eduard
core   +1 more source

Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort

Life
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity.
Rebecca K. Leaf, Hetanshi Naik, Paul Y. Jiang, Sarina B. Elmariah, Pamela Hodges, Jennifer Mead, John Trinidad, Behnam Saberi, Benny Tran, Sarah Valiante, Francesca Mernick, David E. Leaf, Karl E. Anderson, Amy K. Dickey   +13 more
doaj   +1 more source

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 more
doaj   +1 more source

Adjunctive use of Polypodium leucotomos extract in patients with erythropoietic protoporphyria: An exploratory study. [PDF]

Photochem Photobiol
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) cause severe photosensitivity, resulting in significant quality of life (QoL) impairment.
Shetty N, Quiñonez RL, Ceresnie MS, Ghosh S, Lim HW, Mohammad TF.   +5 more
europepmc   +2 more sources

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

Molecular Medicine, 2019
Background X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2).
Vassili Tchaikovskii, Robert J. Desnick, David F. Bishop   +2 more
doaj   +1 more source

Erythropoietic protoporphyria: case reports for clinical and therapeutic hints [PDF]

, 2023
Background Erythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clinical manifestations.
Cristina Tumminelli, Burlo, Francesca, Eleonora De Martino, De Martino, Eleonora, Tommasini, Alberto, Stefano Marchini, Pastore, Serena, Giovanni Maria Severini, Severini, Giovanni Maria, Francesca Burlo, Alberto Tommasini, Irene Berti, Tumminelli, Cristina, Marchini, Stefano, Berti, Irene, Davide Zanon, Zanon, Davide, Serena Pastore   +17 more
core   +1 more source

Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment

The Journal of Dermatology, Volume 53, Issue 6, Page 930-933, June 2026.
ABSTRACT A 50‐year‐old female patient was referred to our department for consultation regarding perioperative management of breast cancer surgery. She had a history of photosensitivity since childhood and was diagnosed with erythropoietic protoporphyria (EPP) during her first pregnancy.
Fumika Tateishi, Naoya Murayama, Ruri Nakamuta, Masahisa Watanabe, Aya Tanaka, Hiroyuki Murota   +5 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: G protein‐coupled receptors

British Journal of Pharmacology, Volume 182, Issue S1, Page S24-S151, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Anthony P. Davenport, Eamonn Kelly, Alasdair J. Gibb, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Maria Pia Abbracchio, George R. Abraham, Alexander Agoulnik, Wayne Alexander, Khaled Al‐hosaini, Magnus Bäck, Jillian G. Baker, Nicholas M. Barnes, Ross Bathgate, Jean‐Martin Beaulieu, Annette G. Beck‐Sickinger, Maik Behrens, Kirstie A. Bennett, Kenneth E. Bernstein, Bernhard Bettler, Nigel J. M. Birdsall, Victoria A. Blaho, Pascal Bonaventure, Francois Boulay, Corinne Bousquet, Hans Bräuner‐Osborne, Andrew J. Brown, Geoffrey Burnstock, Marta Busnelli, Girolamo Caló, Vanni Caruso, Justo P. Castaño, Kevin J. Catt, Stefania Ceruti, Paul Chazot, Nan Chiang, Bice Chini, Arthur Christopoulos, Jerold Chun, Antonia Cianciulli, Olivier Civelli, Lucie H. Clapp, Réjean Couture, Helen M. Cox, Zsolt Csaba, Claes Dahlgren, Frank M. Dautzenberg, Gordon Dent, Steven D. Douglas, Pascal Dournaud, Margarita L. Dubocovich, Satoru Eguchi, Emanuel Escher, Edward J. Filardo, Tung Fong, Huamei Fu Forsman, Marta Fumagalli, Raul R. Gainetdinov, Michael L. Garelja, Marc de Gasparo, Florence Gbahou, Craig Gerard, Marvin Gershengorn, Michelle Glass, David E. Gloriam, Fernand Gobeil, Theodore L. Goodfriend, Cyril Goudet, Lukas Grätz, Karen J. Gregory, Christian Gruber, Andrew L. Gundlach, Jörg Hamann, Julien Hanson, Deborah S. Hartman, Richard L. Hauger, Debbie L. Hay, Akos Heinemann, Laura Heitman, Deron R. Herr, Morley D. Hollenberg, Nicholas D. Holliday, Birgitte Holst, Mastgugu Horiuchi, Daniel Hoyer, László Hunyady, Ahsan Husain, Adriaan P. IJzerman, Tadashi Inagami, Paul A. Insel, Kenneth A. Jacobson, Laura H. Jacobson, Robert T. Jensen, Ralf Jockers, Deepa Jonnalagadda, Sadashiva Karnik, Klemens Kaupmann, Jacqueline Kemp, Charles Kennedy, Yasuyuki Kihara, Julia Kinsolving, Takio Kitazawa, Pawel Kozielewicz, Hans‐Jürgen Kreienkamp, Jyrki P. Kukkonen, Luxmichan Laishram, Tobias Langenhan, Christopher J. Langmead, Dan Larhammar, Katie Leach, Davide Lecca, John D. Lee, Susan E. Leeman, Jérôme Leprince, Rob Leurs, Xaria X. Li, Ines Liebscher, Stephen J. Lolait, Amelie Lupp, Robyn Macrae, Janet J. Maguire, Davide Malfacini, Maurice Manning, Davide Marangon, Kirill Martemyanov, Jean Mazella, Craig A. McArdle, Shlomo Melmed, Martin C. Michel, Laurence J. Miller, Vincenzo Mitolo, Bernard Mouillac, Christa E. Müller, Philip M. Murphy, Jean‐Louis Nahon, Richard R. Neubig, Tony Ngo, Xavier Norel, Duuamene Nyimanu, Anne‐Marie O’Carroll, Stefan Offermanns, Maria Antonietta Panaro, Marc Parmentier, Nicole Perry‐Hauser, Roger G. Pertwee, Jean‐Philippe Pin, Eric R. Prossnitz, Helena Chengxue Qin, Mark Quinn, Stefano Raffaele, Rithwik Ramachandran, Manisha Ray, Rainer K. Reinscheid, Alejandro Romeral Buzón, Philippe Rondard, Mette M. Rosenkilde, G. Enrico Rovati, Chiara Ruzza, Gareth J. Sanger, Nicole Scholz, Torsten Schöneberg, Gunnar Schulte, Stefan Schulz, Deborah L. Segaloff, Charles N. Serhan, Arun K. Shukla, Khuraijam Dhanachandra Singh, Craig M. Smith, Nicola J. Smith, Claudia Stäubert, Leigh A. Stoddart, Yukihiko Sugimoto, Roger Summers, Valerie P. Tan, David M. Thal, Walter ( Wally) Thomas, Pieter B. M. W. M. Timmermans, Kalyan Tirupula, Lawrence Toll, Giovanni Tulipano, Hamiyet Unal, Thomas Unger, Celine Valant, Patrick Vanderheyden, David Vaudry, Hubert Vaudry, Joseph G. Verbalis, Jean‐Pierre Vilardaga, Christopher S. Walker, Ji Ming Wang, Donald T. Ward, Hans‐Jürgen Wester, Gary B. Willars, Tom Lloyd Williams, Trent M. Woodruff, Huixian Wu, Cheng Yang, Chengcan Yao, Richard D. Ye, Nathan Zaidman   +206 more
wiley   +1 more source