Results 341 to 350 of about 13,340,828 (402)

Current trends in single‐cell RNA sequencing applications in diabetes mellitus

FEBS Open Bio, EarlyView.
Single‐cell RNA sequencing is a powerful approach to decipher the cellular and molecular landscape at a single‐cell resolution. The rapid development of this technology has led to a wide range of applications, including the detection of cellular and molecular mechanisms and the identification and introduction of novel potential diagnostic and ...
Seyed Sajjad Zadian, Khodakaram Jahanbin, Shekoofeh Nikooei, Marzieh Rostaminejad, Arezoo Rahimi, Pedram Abdizadeh, Behnam Alipoor   +6 more
wiley   +1 more source

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection. [PDF]

Am J Hum Genet
Kingsmore SF, Wright M, Smith LD, Liang Y, Mowrey WR, Protopsaltis L, Bainbridge M, Baker M, Batalov S, Blincow E, Cao B, Caylor S, Chambers C, Ellsworth K, Feigenbaum A, Frise E, Guidugli L, Hall KP, Hansen C, Kiel M, Van Der Kraan L, Krilow C, Kwon H, Madhavrao L, Lefebvre S, Leipzig J, Mardach R, Moore B, Oh D, Olsen L, Ontiveros E, Owen MJ, Reimers R, Scharer G, Schleit J, Shelnutt S, Mehtalia SS, Oriol A, Sanford E, Schwartz S, Wigby K, Willis MJ, Yandell M, Kunard CM, Defay T.   +44 more
europepmc   +1 more source

Earthing effects on mitochondrial function: ATP production and ROS generation

FEBS Open Bio, EarlyView.
In contrast to sham and naive controls, grounded mitochondria not only exhibit significantly enhanced energy production but also demonstrate a remarkable reduction in membrane potential and oxidative stress. This suggests a profound improvement in mitochondrial health, presenting a promising avenue for therapeutic interventions.
Cecilia Giulivi, Richard Kotz
wiley   +1 more source

Biophysical characterization and ion transport with cell‐based and proteoliposome reconstitution assays of invertebrate K+‐Cl− cotransporters

FEBS Open Bio, EarlyView.
The K+‐Cl− cotransporters (KCCs) facilitate the symport of ions across the plasma membrane. They participate in physiological processes including neuronal regulation. Here, we characterized KCCs from Drosophila and Hydra vulgaris. Comparative analyses of transporters provide insights into the mechanism of KCC ion transport, regulation, and evolution ...
Satoshi Fudo, Marina Verkhovskaya, Coralie Di Scala, Claudio Rivera, Tommi Kajander   +4 more
wiley   +1 more source

An efficient strategy for producing RNA‐free Nucleocapsid protein of SARS‐CoV‐2 for biochemical and structural investigations

FEBS Open Bio, EarlyView.
Cleavable N‐terminal Thioredoxin fusion enabled soluble expression and purification of otherwise insoluble SARS‐CoV‐2 Nucleocapsid (N) protein. A four‐step purification strategy yielded highly homogeneous, RNA‐free N protein. Binding assays showed high RNA affinity (Kd ~ 28 nm). The study will facilitate high‐resolution structural studies of N protein,
Shweta Singh, Gagan D. Gupta
wiley   +1 more source

The Role of Patient Organizations in Shaping Research, Health Policies, and Health Services for Rare Genetic Diseases: The Dutch Experience. [PDF]

Genes (Basel)
Poortman Y, Ens-Dokkum M, Nippert I.
europepmc   +1 more source

Functional parameters of spermatozoa obtained by a new selection device

FEBS Open Bio, EarlyView.
This study compares density gradient centrifugation and the LensHooke CA0™ device for sperm separation. DGC requires multiple steps, specialized equipment, and technical expertise. In contrast, the CA0 device offers key practical and methodological advantages, resulting in a faster, simpler, and more affordable sperm selection method.
Julio C. Chávez, Paulina Torres, Gabriela Carrasquel‐Martínez, María G. Figueroa‐Méndez, Diana Flores, Lina Villar, Israel Maldonado, Marcela B. Trevino, Claudia Treviño   +8 more
wiley   +1 more source

Advancing diagnosis and research for rare genetic diseases in Indigenous peoples. [PDF]

Nat Genet
Baynam G, Julkowska D, Bowdin S, Hermes A, McMaster CR, Prichep E, Richer É, van der Westhuizen FH, Repetto GM, Malherbe H, Reichardt JKV, Arbour L, Hudson M, du Plessis K, Haendel M, Wilcox P, Lynch SA, Rind S, Easteal S, Estivill X, Caron N, Chongo M, Thomas Y, Letinturier MCV, Vorster BC.   +24 more
europepmc   +1 more source

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial. [PDF]

Am J Hum Genet
Kingsmore SF, Wright M, Olsen L, Schultz B, Protopsaltis L, Averbuj D, Blincow E, Carroll J, Caylor S, Defay T, Ellsworth K, Feigenbaum A, Gover M, Guidugli L, Hansen C, Van Der Kraan L, Kunard CM, Kwon H, Madhavrao L, Leipzig J, Liang Y, Mardach R, Mowrey WR, Nguyen H, Niemi AK, Oh D, Saad M, Scharer G, Schleit J, Mehtalia SS, Sanford E, Smith LD, Willis MJ, Wigby K, Reimers R.   +34 more
europepmc   +1 more source