Results 41 to 50 of about 21,048 (245)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Screening for CLCN5 mutation in renal calcium stone formers patients

Anais da Academia Brasileira de Ciências, 2005
Thirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low ...
Maria Alice P. Rebelo, Vera Tostes, Nordeval C. Araújo, Sabrina V. Martini, Bruno F. Botelho, William B. Guggino, Marcelo M. Morales   +6 more
doaj   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Multi‐Omic Profiling Reveals Immune Cell Priming Signature Linked to Lupus Prognosis

Arthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) is a multiorgan disease with widespread immune dysregulation and significant unmet clinical need. Blood‐based gene expression studies have advanced our understanding of SLE pathogenesis but may overlook critical tissue‐specific mechanisms that drive disease heterogeneity and progression.
Michael A. Smith, Dominic Sinibaldi, Saifur Rahman, Chia‐Chien Chiang, Anna M. Hansen, Jill Henault, Carlos P. Roca, Shu Wang, Kamelia Zerrouki, Rebecca Filippi, Christopher Groves, Zerai Manna, Jun Chu, Michael Davis, Sarthak Gupta, Christopher Morehouse, Melissa de los Reyes, Rachel Ettinger, Roland Kolbeck, Mariana J. Kaplan, Miguel A. Sanjuan, Richard M. Siegel, Sarfaraz A. Hasni, Kerry A. Casey   +23 more
wiley   +1 more source

Clinical and CLCN5 genetic mutation analysis of Dent’s disease in children

Linchuang shenzangbing zazhi, 2017
Objective Dent disease is a rare X-linked recessive renal tubular disease.This study aimed to enhance the recognition of dent disease by exploring the clinical characteristics and genetic features.Methods Methods The clinical data of 3 children with Dent
CHEN Guo-qiang, ZHANG Xiao-ge, LI Zhi-juan, CHENG Yin-ping   +3 more
doaj  

Unveiling Endotypes in Systemic Lupus Erythematosus Through Multiomic Analysis: Insights Into Cardiovascular and Renal Complications

Arthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) shows clinical and molecular heterogeneity, and cardiovascular (CV) complications and lupus nephritis (LN) remain leading causes of morbidity and mortality. This study investigated whether omic profiling can reveal molecular endotypes linked to these outcomes.
Tomás Cerdó, Laurel Woodridge, Sagrario Corrales, Juan Rafael Muñoz‐Castañeda, Ana Isabel Torralbo, Anisur Rahman, Filipa Farinha, Rafaela Ortega Castro, Pedro Segui, Ismael Sanchez‐Pareja, Laura Muñoz‐Barrera, Christian Merlo, Desiree Ruiz‐Vilchez, M. Carmen Ábalos‐Aguilera, Pilar Font, Nuria Barbarroja Puerto, PRECISESADS Clinical Consortium, Lorenzo Beretta, Barbara Vigone, Jacques‐Olivier Pers, Alain Saraux, Valérie Devauchelle‐Pensec, Divi Cornec, Sandrine Jousse‐Joulin, Bernard Lauwerys, Julie Ducreux, Anne‐Lise Maudoux, Carlos Vasconcelos, Ana Tavares, Esmeralda Neves, Raquel Faria, Mariana Brandão, Ana Campar, António Marinho, Fátima Farinha, Isabel Almeida, Miguel Angel Gonzalez‐Gay Mantecón, Ricardo Blanco Alonso, Alfonso Corrales Martínez, Ricard Cervera, Ignasi Rodríguez‐Pintó, Gerard Espinosa, Rik Lories, Ellen De Langhe, Nicolas Hunzelmann, Doreen Belz, Torsten Witte, Niklas Baerlecken, Georg Stummvoll, Michael Zauner, Michaela Lehner, Eduardo Collantes, Ma Carmen Castro‐Villegas, Norberto Ortego, María Concepción Fernández Roldán, Enrique Raya, Inmaculada Jiménez Moleón, Enrique de Ramon, Isabel Díaz Quintero, Pier Luigi Meroni, Maria Gerosa, Tommaso Schioppo, Carolina Artusi, Carlo Chizzolini, Aleksandra Zuber, Donatienne Wynar, Laszló Kovács, Attila Balog, Magdolna Deák, Márta Bocskai, Sonja Dulic, Gabriella Kádár, Falk Hiepe, Velia Gerl, Silvia Thiel, Manuel Rodriguez Maresca, Antonio López‐Berrio, Rocío Aguilar‐Quesada, Héctor Navarro‐Linares, Marta Alarcón‐Riquelme, Alejandro Escudero‐Contreras, M. Ángeles Aguirre‐Zamorano, Carlos Perez‐Sanchez, Elizabeth C. Jury, Chary Lopez‐Pedrera   +84 more
wiley   +1 more source

Harnessing ferroptosis from multilayer defense networks to nanoplatforms for specific cancer therapy

BMEMat, EarlyView.
Nanomaterials target metabolically‐regulated ferroptosis for cancer therapy. Iron‐based or alternative nanoplatforms integrate ferroptosis with chemotherapy, immunotherapy, or radiotherapy. They enable stimulus‐responsive therapies (photothermal, photodynamic, sonodynamic) activated by near‐infrared, light, or ultrasound, achieving potent synergistic ...
Xinyue Xu, Xuejian Wang, Wenyan Jiang, Wan Hairul Anuar Kamaruddin, Chunyan Fang, Pengfei Zhang   +5 more
wiley   +1 more source

Operationalizing Precision Medicine in Drug Development: Predictive Biomarkers, Companion Diagnostics, and Regulatory Pathways

Clinical Pharmacology &Therapeutics, EarlyView.
Precision medicine offers the opportunity to improve the benefit–risk profile of new therapies by prospectively identifying patients most likely to respond or least likely to experience harm; however, its systematic integration into drug development remains inconsistent outside oncology.
Ingrid Holst‐Laubjerg, José M.A. Moreira   +1 more
wiley   +1 more source

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants

Kidney International Reports
Introduction: Cubilin is a multiligand receptor essential for vitamin B12 uptake in the small intestine and for low–molecular-weight protein reabsorption in the proximal tubule.
Nana Sakakibara, Shinya Ishiko, Yu Tanaka, Yuta Inoki, Yuta Ichikawa, Hideaki Kitakado, Chika Ueda, Atsushi Kondo, Yuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Chinatsu Onodera, Aya Inaba, Riku Hamada, Yutaka Harita, China Nagano, Kandai Nozu   +17 more
doaj   +1 more source

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

BMC Nephrology, 2022
Background Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD).
Eleni Drosataki, Sevasti Maragkou, Kleio Dermitzaki, Ioanna Stavrakaki, Dimitra Lygerou, Helen Latsoudis, Christos Pleros, Ioannis Petrakis, Ioannis Zaganas, Kostas Stylianou   +9 more
doaj   +1 more source