Results 61 to 70 of about 1,715 (142)

Enhanced effect of the hallucinogen DOI in L-DOPA receptor Gpr143-deficient mice

Journal of Pharmacological Sciences
Hallucinogens, such as lysergic acid diethylamide, act primarily through the 5-hydroxytryptamine 2A (5-HT2A) receptor, but their regulatory mechanisms remain unclear.
Daiki Masukawa, Rei Tajika, Yoshimi Ichimaru, Masaaki Kurihara, Tsutomu Suzuki, Yoshio Goshima   +5 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

RNA‐Sequencing Reveals Two Subgroups of Eccrine Porocarcinomas and Poromas

Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.
ABSTRACT Eccrine porocarcinoma (EPC), a rare malignant eccrine gland tumour, remains molecularly understudied. Transcriptomic studies of EPC and benign eccrine poroma (EP) have identified recurrent fusions and expression changes, but differences distinguishing malignant EPC from benign EP are unclear.
Maya Puttonen, Sami Kilpinen, Maria von Willebrand, Kalle Ojala, Tom Böhling, Virve Koljonen, Harri Sihto   +6 more
wiley   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Genetic testing for ocular albinism and oculocutaneous albinism

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular albinism and oculocutaneous albinism.
Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Falsini Benedetto, Bertelli Matteo   +5 more
doaj   +1 more source

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation [PDF]

, 2016
Citation: Lee W, Schuerch K, Xie Y(A), et al. Simultaneous expression of ABCA4 and GPR143 mutations: a complex phenotypic manifestation. Invest Ophthalmol Vis Sci. 2016;57:3409-3415. DOI:10.1167/ iovs.16-19621 PURPOSE.
Jana Zernant, Stephen H Tsang, Yajing, Winston Lee, Kaspar Schuerch, Angela Xie, Rando Allikmets, Janet R Sparrow   +7 more
core  

Genetic testing for infantile nystagmus

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for infantile nystagmus (IN).
Abeshi Andi, Coppola Pamela, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo   +5 more
doaj   +1 more source

Exploration of Potential Antidepressant Active Ingredients of Albiziae Flos via HS–GC–MS, Chemometrics, and Network Pharmacology

Journal of Analytical Methods in Chemistry, Volume 2026, Issue 1, 2026.
Albiziae Flos (AF) is a traditional Chinese medicine with an extensive historical background. This study presented an integrated approach combining headspace–gas chromatography–mass spectrometry (HS–GC–MS), chemometrics, and network pharmacology to comprehensively evaluate the volatile components of AF and explore their potential antidepressant ...
Dan Yang, Dan He, Yiwu Wang, Yuan Shen, Jialing Yu, Ruijia Yang, Lin Yang, Luca Tortora   +7 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Introduction and Other Protein Targets

British Journal of Pharmacology, Volume 182, Issue S1, Page S1-S23, 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, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, John A. Cidlowski, Anthony P. Davenport, Doriano Fabbro, Michael Spedding, Jörg Striessnig, Jane F. Armstrong, O. Peter Buneman, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Katelin E. Ahlers‐Dannen, Mohammed Alqinyah, Thiruma V. Arumugam, Christopher Bodle, Josephine Buo Dagner, Bandana Chakravarti, Shreoshi P. Choudhuri, Kirk M. Druey, Rory A. Fisher, Kyle J. Gerber, John R. Hepler, Shelley B. Hooks, Havish S. Kantheti, Behirda Karaj, Somayeh Layeghi‐Ghalehsoukhteh, Jae‐Kyung Lee, Zili Luo, Kirill Martemyanov, Luke D. Mascarenhas, Harrison McNabb, Carolina Montañez‐Miranda, Osita Ogujiofor, Hoa Phan, David L. Roman, Vincent Shaw, Benita Sjogren, Christopher Sobey, Mackenzie M. Spicer, Katherine E. Squires, Laurie Sutton, Menbere Wendimu, Thomas Wilkie, Keqiang Xie, Qian Zhang, Yalda Zolghadri   +51 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