Results 211 to 220 of about 3,187,926 (385)

Isolated Prothrombin Deficiency: A Case Report of a Rare Coagulation Disorder and Review of Literature. [PDF]

Cureus
Bollineni P, Suman FR, Jayaraman D, Subramani N, Gaddam S.   +4 more
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Single‐Molecule Protein Profiling Using Nanopores and Dimeric Aptamer‐Modified DNA Carriers

Angewandte Chemie, EarlyView.
We developed a nanopore‐based biosensor for single‐molecule protein profiling using aptamer‐modified DNA carrier dimerization strategy, enabling selective and ultrasensitive detection of proteins and protein complexes. This approach promises advances in early‐stage clinical diagnostics and precision medicine.
Xiaoyi Wang, Yaxian Liu, Ren Ren, Joshua B. Edel, Aleksandar P. Ivanov   +4 more
wiley   +2 more sources

PP-370 Coagulation Disorders in Marfan Syndrome [PDF]

, 2014
Claudia Pujol, S. Braun, Heide Seidel, Christian Meierhofer, Siegrun Mebus, Michaela Horndasch, Alexander Stöckl, Jörg Schoetzau, Peter Ewert, H. Kaemmerer   +9 more
openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Neuropeptides in the Extracellular Space of the Mouse Cortex Measured In Vivo by Nanodialysis Probe Coupled with LC‐MS

Angewandte Chemie, EarlyView.
This study reveals a complex peptidomic landscape in the mouse somatosensory cortex, identifying locally released and potentially transported neuropeptides using a membrane‐free nanodialysis sampling probe coupled with nanoLC‐timsTOF mass spectrometry.
Keyin Li, Weihua Shi, Yanqi Tan, Yu Ding, Alex G. Armstrong, Yurii Vlasov, Jonathan V. Sweedler   +6 more
wiley   +2 more sources

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

A companion to the preclinical common data elements for genomics, transcriptomics, and epigenomics data in rodent epilepsy models. A report of the TASK3‐WG4 omics working group of the ILAE/AES joint translational TASK force

Epilepsia Open, EarlyView., 2022
Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force established the TASK3 working groups to create common data elements (CDEs) for various preclinical epilepsy research disciplines. The aim of the CDEs is to improve the standardization of experimental designs across a range of epilepsy ...
Erwin A. van Vliet, Michael S. Hildebrand, James D. Mills, Gary P. Brennan, Tore Eid, Susan A. Masino, Vicky Whittemore, Laura Bindila, Kevin K. Wang, Manisha Patel, Piero Perucca, Christopher A. Reid   +11 more
wiley   +1 more source

Erbin Regulates Tissue Factors Through Ras/Raf Pathway in Coagulation Disorders in Sepsis

Journal of Inflammation Research
Cheng Yang,1,* Chuntian Lei,1,* Guoqing Jing,1 Yun Xia,1 Huimin Zhou,1 Die Wu,1 Jing Zuo,1 Hailong Gong,1 Xing Wang,1 Yingyue Dong,1 Delida Aidebaike,1 Xiaojing Wu,2 Xuemin Song1 1Research Centre of Anesthesiology and Critical Care Medicine ...
Yang C, Lei C, Jing G, Xia Y, Zhou H, Wu D, Zuo J, Gong H, Wang X, Dong Y, Aidebaike D, Wu X, Song X   +12 more
doaj  

“Noninfective Endocarditis”: A Case Report of Hereditary Coagulation Disorders in a 28-Year-Old Male [PDF]

, 2020
Gregory Reid, Luca Koechlin, Oliver Reuthebuch, Florian Rüter, Helmut Hopfer, Friedrich Eckstein, David Santer   +6 more
openalex   +1 more source