Results 81 to 90 of about 2,677 (178)

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

BMC Genomics, 2023
Background Approximately 4–8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies.
Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri   +9 more
doaj   +1 more source

Conserved syntenic clusters of protein coding genes are missing in birds [PDF]

, 2014
BACKGROUND: Birds are one of the most highly successful and diverse groups of vertebrates, having evolved a number of distinct characteristics, including feathers and wings, a sturdy lightweight skeleton and unique respiratory and urinary/excretion ...
Carbone, Lucia, Lazar, Nathan H, Lovell, Peter V, Mello, Claudio V, Minx, Patrick, Warren, Wesley C, Wilhelm, Larry, Wirthlin, Morgan   +7 more
core   +2 more sources

Patient‐derived xenograft models in pan‐cancer: From bench to clinic

Interdisciplinary Medicine, Volume 3, Issue 5, September 2025.
Abstract Patient‐derived xenograft (PDX) models provide a robust preclinical platform that preserves the genetic and phenotypic heterogeneity of patient tumors while mirroring their tumor genetic characteristics, which retain malignant cells and the tumor pathological structure, making them valuable for studying tumor progression and developing ...
Jiatong Li, Ao Gu, Nannan Tang, Gokhan Zengin, Meng‐Yao Li, Yingbin Liu   +5 more
wiley   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Molecular profiling of peripheral blood is associated with circulating tumor cells content and poor survival in metastatic castration-resistant prostate cancer. [PDF]

, 2018
The enumeration of circulating tumor cells (CTCs) in peripheral blood correlates with clinical outcome in castration-resistant prostate cancer (CRPC). We analyzed the molecular profiling of peripheral blood from 43 metastatic CRPC patients with known CTC
Carrera, Gemma, Colomer, Anna, Erill, Nadina, Gaba, Lydia, Garcia Recio, Susana, Gascón, Pere, Jiménez, Natalia, Lozano Salvatella, Juan José, Marín Aguilera, Mercedes, Mellado González, Begoña, Ortega, Vanessa, Reig, Oscar, Tagliapietra, Andrea   +12 more
core   +1 more source

Rescue of Epilepsy‐Associated Mutations of the Highly Conserved Glycine Residue 443 in the Human GABA Transporter 1

The FASEB Journal, Volume 39, Issue 11, 15 June 2025.
Mutations in the human GABA transporter 1 (hGAT‐1) gene impair GABA transport, leading to developmental disorders like epilepsy and autism. These mutations often disrupt protein folding. Pharmacochaperones can rescue transporter expression and function in heterologous cell lines and in Drosophila melanogaster, thus offering potential therapeutic ...
Nikita Shah, Vasylyna Kovalchuk, Rocco Zerlotti, Kim Cole, Andre Bazzone, Harald H. Sitte, Thomas Hummel, Ameya S. Kasture, Sonja Sucic   +8 more
wiley   +1 more source

La creatina como ayuda ergogénica nutricional en el deportista jóven [PDF]

, 2019
La creatina es una de las ayudas ergogénicas más utilizadas en muchos deportes, con el objetivo de aumentar el rendimiento de los ejercicios de alta intensidad, mejorar la recuperación posterior al esfuerzo y prevenir lesiones.
González Cano, Henar
core  

An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene

Movement Disorders, Volume 40, Issue 4, Page 672-682, April 2025.
Abstract Objective Pathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes
Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson   +10 more
wiley   +1 more source

Surface Potential-Engineered Dentin Promotes Jaw Repair Via Metabolic Reprogramming

International Dental Journal
Aim or purpose: To investige the immunoregulatory role of electroactive dentin in jaw repair, and establish its structure-function relationship with surface potential characteristics.
Yilin Zhang, Lisha Gu
doaj   +1 more source

Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8

Journal of Molecular Biology
Creatine is an essential metabolite for the storage and rapid supply of energy in muscle and nerve cells. In humans, impaired metabolism, transport, and distribution of creatine throughout tissues can cause varying forms of mental disability, also known as creatine deficiency syndrome (CDS).
Ferrada, Evandro, Wiedmer, Tabea, Wang, Wen-An, Frommelt, Fabian, Steurer, Barbara, Klimek, Christoph, Lindinger, Sabrina, Osthushenrich, Tanja, Garofoli, Andrea, Brocchetti, Silvia, Bradberry, Samuel, Huang, Jiahui, MacNamara, Aidan, Scarabottolo, Lia, Ecker, Gerhard F., Malarstig, Anders, Superti-Furga, Giulio   +16 more
openaire   +3 more sources