PMC Articles for MedGen (Select 6984) - PMC

Links from MedGen

Items: 1 to 20 of 140

<< First< Prev

Page of 7

Select item 110100961.

Multiorgan Dysfunction and Associated Prognosis in Transthyretin Cardiac Amyloidosis

Adam Ioannou, Christian Nitsche, Aldostefano Porcari, Rishi K. Patel, Yousuf Razvi, Muhammad U. Rauf, Ana Martinez‐Naharro, Lucia Venneri, Antonella Accietto, Lucrezia Netti, Francesco Bandera, Ruta Virsinskaite, Tushar Kotecha, Dan Knight, Aviva Petrie, Carol Whelan, Ashutosh Wechalekar, Helen Lachmann, Philip N. Hawkins, Julian D. Gillmore, Marianna Fontana

J Am Heart Assoc. 2024 Feb 20; 13(4): e033094. Published online 2024 Feb 5. doi: 10.1161/JAHA.123.033094

PMCID:: PMC11010096

Article PDF–2.1M

Select item 108228762.

Case report: Early molecular confirmation and sodium polystyrene sulfonate management of systemic pseudohypoaldosteronism type I

Einas H. Alkhatib, Deirdre Bartlett, Roopa Kanakatti Shankar, Debra Regier, Nadia Merchant

Front Endocrinol (Lausanne) 2023; 14: 1297335. Published online 2024 Jan 15. doi: 10.3389/fendo.2023.1297335

PMCID:: PMC10822876

Article PDF–294K

Select item 107776633.

Efficacy of Selpercatinib in RET-Altered Thyroid Cancers

Lori J. Wirth, Eric Sherman, Bruce Robinson, Benjamin Solomon, Hyunseok Kang, Jochen Lorch, Francis Worden, Marcia Brose, Jyoti Patel, Sophie Leboulleux, Yann Godbert, Fabrice Barlesi, John C. Morris, Taofeek K. Owonikoko, Daniel S.W. Tan, Oliver Gautschi, Jared Weiss, Christelle De La Fouchardiere, Mark E. Burkard, Janessa Laskin, Matthew H. Taylor, Matthias Kroiss, Jacques Medioni, Jonathan W. Goldman, Todd M. Bauer, Benjamin Levy, Viola W. Zhu, Nehal Lakhani, Victor Moreno, Kevin Ebata, Michele Nguyen, Dana Heirich, Edward Y. Zhu, Xin Huang, Luxi Yang, Jennifer Kherani, S. Michael Rothenberg, Alexander Drilon, Vivek Subbiah, Manisha H. Shah, Maria E. Cabanillas

N Engl J Med. Author manuscript; available in PMC 2024 Jan 10.

Published in final edited form as: N Engl J Med. 2020 Aug 27; 383(9): 825–835. doi: 10.1056/NEJMoa2005651

PMCID:: PMC10777663

Article PDF–1017K

Select item 107705354.

Extracellular sodium regulates fibroblast growth factor 23 (FGF23) formation

Zsuzsa Radvanyi, Eun Jin Yoo, Palanivel Kandasamy, Adrian Salas-Bastos, Sophie Monnerat, Julie Refardt, Mirjam Christ-Crain, Himeka Hayashi, Yasuhiko Kondo, Jonathan Jantsch, Isabel Rubio-Aliaga, Lukas Sommer, Carsten A. Wagner, Matthias A. Hediger, Hyug Moo Kwon, Johannes Loffing, Ganesh Pathare

J Biol Chem. 2024 Jan; 300(1): 105480. Published online 2023 Nov 21. doi: 10.1016/j.jbc.2023.105480

PMCID:: PMC10770535

Article PDF–1.7M

Select item 107209225.

Long-Term Indomethacin Treatment in a Chinese Child with Gitelman Syndrome: Case Report and Literature Review on its Efficacy and Tolerance

Xiaoyan Peng, Chaoying Chen, Juan Tu, Yuan Lin, Huarong Li, Haiyun Geng

Am J Case Rep. 2023; 24: e941627-1–e941627-8. Published online 2023 Dec 9. doi: 10.12659/AJCR.941627

PMCID:: PMC10720922

Article PDF–1.2M

Select item 106953946.

Genome mining yields putative disease-associated ROMK variants with distinct defects

Nga H. Nguyen, Srikant Sarangi, Erin M. McChesney, Shaohu Sheng, Jacob D. Durrant, Aidan W. Porter, Thomas R. Kleyman, Zachary W. Pitluk, Jeffrey L. Brodsky

PLoS Genet. 2023 Nov; 19(11): e1011051. Published online 2023 Nov 13. doi: 10.1371/journal.pgen.1011051

PMCID:: PMC10695394

Article PDF–3.7M

Select item 106767527.

Systems biology of the vasopressin V2 receptor: New tools for discovery of molecular actions of a GPCR

Lihe Chen, Hyun Jun Jung, Arnab Datta, Euijung Park, Brian G. Poll, Hiroaki Kikuchi, Kirby T. Leo, Yash Mehta, Spencer Lewis, Syed J. Khundmiri, Shaza Khan, Chung-Lin Chou, Viswanathan Raghuram, Chin-Rang Yang, Mark A. Knepper

Annu Rev Pharmacol Toxicol. Author manuscript; available in PMC 2023 Nov 26.

Published in final edited form as: Annu Rev Pharmacol Toxicol. 2022 Jan 6; 62: 595–616. Published online 2021 Sep 27. doi: 10.1146/annurev-pharmtox-052120-011012

PMCID:: PMC10676752

Article PDF–1.6M

Select item 106739838.

Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease

Martin Kömhoff, Valentina Gracchi, Henry Dijkman, Bodo B. Beck, Leo Monnens

Pediatr Nephrol. 2024; 39(1): 125–129. Published online 2023 Jul 14. doi: 10.1007/s00467-023-06079-6

PMCID:: PMC10673983

Article PDF–442K

Select item 105860219.

Hyponatremia elicits gene expression changes driving osteoclast differentiation and functions

Julianna Barsony, Qin Xu, Joseph G. Verbalis

Mol Cell Endocrinol. Author manuscript; available in PMC 2023 Oct 19.

Published in final edited form as: Mol Cell Endocrinol. 2022 Aug 20; 554: 111724. Published online 2022 Jul 14. doi: 10.1016/j.mce.2022.111724

PMCID:: PMC10586021

Article PDF–1.4M

Select item 1051654310.

Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome

Anna Go, Beom Hee Lee, Jin-Ho Choi, Jiyoon Jeong, Euiseok Jung, Byong Sop Lee

Front Endocrinol (Lausanne) 2023; 14: 1242387. Published online 2023 Sep 6. doi: 10.3389/fendo.2023.1242387

PMCID:: PMC10516543

Article PDF–1.8M

Select item 1041416511.

新生儿多脏器型假性醛固酮减少症Ⅰ型

曹芯诚, 陈园园, 张可, 张迅捷, 杨琳, 李志华

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Jul 15; 25(7): 774–778. Chinese. doi: 10.7499/j.issn.1008-8830.2305011

PMCID:: PMC10414165

Article PDF–702K

Select item 1037394912.

Vasopressin Expressed in Hypothalamic CRF Neurons Causes Impaired Water Diuresis in Secondary Adrenal Insufficiency

Satoshi Yamagata, Ashraf H Talukder, Shingo Murasawa, Kanako Niioka, Naoya Kumagai, Mao Takagi, Meiko Kawamura, Rie Natsume, Manabu Abe, Katsuya Uchida, Tatsuya Sato, Akira Kurose, Kazunori Kageyama, Makoto Daimon, Kenji Sakimura, Keiichi Itoi

Endocrinology. 2023 Aug; 164(8): bqad109. Published online 2023 Jul 14. doi: 10.1210/endocr/bqad109

PMCID:: PMC10373949

Article

Select item 1033530813.

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review

Bruce Wang, Herbert L. Bonkovsky, Joseph K. Lim, Manisha Balwani

Gastroenterology. Author manuscript; available in PMC 2023 Jul 11.

Published in final edited form as: Gastroenterology. 2023 Mar; 164(3): 484–491. Published online 2023 Jan 13. doi: 10.1053/j.gastro.2022.11.034

PMCID:: PMC10335308

Article PDF–456K

Select item 1024471714.

V2 vasopressin receptor mutations: future personalized therapy based on individual molecular biology

László Sándor Erdélyi, László Hunyady, András Balla

Front Endocrinol (Lausanne) 2023; 14: 1173601. Published online 2023 May 24. doi: 10.3389/fendo.2023.1173601

PMCID:: PMC10244717

Article PDF–485K

Select item 1022747415.

Congenital chloride diarrhea in patient with SLC26A2 mutation – analysis of the clinical phenotype and differential diagnosis

Meiyuan Sun, Na Tao, Xiaomei Liu, Yang Yang, Yanfang Su, Fang Xu

Pediatr Endocrinol Diabetes Metab. 2021 Mar; 27(1): 51–56. Published online 2021 Feb 11. doi: 10.5114/pedm.2020.97465

PMCID:: PMC10227474

Article PDF–443K

Select item 1022088716.

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report

Ioana Rosca, Alina Turenschi, Alin Nicolescu, Andreea Teodora Constantin, Adina Maria Canciu, Alice Denisa Dica, Elvira Bratila, Ciprian Andrei Coroleuca, Leonard Nastase

Medicina (Kaunas) 2023 May; 59(5): 856. Published online 2023 Apr 28. doi: 10.3390/medicina59050856

PMCID:: PMC10220887

Article PDF–2.0M

Select item 1021464217.

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

Wanqi Zheng, Ying Duan, Yu Xia, Lili Liang, Zhuwen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Huiwen Zhang, Lianshu Han, Zizhen Gong, Bing Xiao, Wenjuan Qiu

Orphanet J Rare Dis. 2023; 18: 126. Published online 2023 May 26. doi: 10.1186/s13023-023-02737-y

PMCID:: PMC10214642

Article PDF–1.4M

Select item 1018992818.

Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series

Tarik Elhadd, Ahmad Majzoub, Charlotte Wilson, Laura McCreight, Muna S. Mohamed, Fiona C. Green, Andrew J. Collier

BMC Endocr Disord. 2023; 23: 110. Published online 2023 May 17. doi: 10.1186/s12902-023-01359-6

PMCID:: PMC10189928

Article PDF–924K

Select item 998853119.

Hypo-osmolarity induces apoptosis resistance via TRPV2-mediated AKT-Bcl-2 pathway

Hayato Urushima, Tsutomu Matsubara, Masaaki Miyakoshi, Shioko Kimura, Hideto Yuasa, Katsutoshi Yoshizato, Kazuo Ikeda

Am J Physiol Gastrointest Liver Physiol. 2023 Mar 1; 324(3): G219–G230. Published online 2023 Jan 31. doi: 10.1152/ajpgi.00138.2022

PMCID:: PMC9988531

Article

Select item 987022420.

Efficacy and Safety of Trametinib Monotherapy or in Combination With Dabrafenib in Pediatric BRAF V600–Mutant Low-Grade Glioma

Eric Bouffet, Birgit Geoerger, Christopher Moertel, James A. Whitlock, Isabelle Aerts, Darren Hargrave, Lisa Osterloh, Eugene Tan, Jeea Choi, Mark Russo, Elizabeth Fox

J Clin Oncol. 2023 Jan 20; 41(3): 664–674. Published online 2022 Nov 14. doi: 10.1200/JCO.22.01000

PMCID:: PMC9870224

Article PDF–431K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 140

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity