Results 211 to 220 of about 1,702,970 (343)

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

Journal of the American Society of Nephrology, 2014
Evelyne Huynh Cong, A. Bizet, O. Boyer, S. Woerner, O. Gribouval, E. Filhol, C. Arrondel, Sophie Thomas, F. Silbermann, G. Canaud, J. Hachicha, N. Ben Dhia, M. Peraldi, K. Harzallah, D. Iftene, L. Daniel, M. Willems, L. Noel, C. Bôle-Feysot, P. Nitschké, M. Gubler, G. Mollet, S. Saunier, C. Antignac   +23 more
semanticscholar   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Phenotypic impact on coat color and uterine development in mice carrying a missense mutation associated with bovine White Heifer Disease. [PDF]

J Vet Med Sci
Wu Y, Sekiguchi M, Nakadaira Y, Ishiyama D, Magata F, Fujii W, Kyuwa S, Matsuda F, Kakuta S.   +8 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Long QT interval syndrome type 2 caused by a new missense mutation of KCNH2 gene: A case report. [PDF]

Medicine (Baltimore)
Ma Y, Wang L, Wu S, Peng C.
europepmc   +1 more source

A novel MKRN3 missense mutation causing familial precocious puberty.

Human Reproduction, 2014
L. D. Vries, L. Vries, G. Gat-Yablonski, G. Gat-Yablonski, N. Dror, N. Dror, A. Singer, Moshe Phillip, Moshe Phillip   +8 more
semanticscholar   +1 more source

”Not always the magic bullet”—Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic dietary therapies (KDTs) are the treatment of choice for Glut1 Deficiency Syndrome (Glut1DS), providing dietary ketones as an alternative fuel to the brain and effectively controlling seizures. Recent evidence indicates insufficient seizure control in Glut1DS patients despite adequate KDT and ketosis.
Joerg Klepper, Eva Runkel, Lucia Kiesel
wiley   +1 more source

A recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2. [PDF]

Anim Genet
Fuller AM, Davidson C, Petersen JL.
europepmc   +1 more source

AKT, ATR, and Notch Inhibitors Radiosensitize a Preclinical Model of Adenoid Cystic Carcinoma

Head &Neck, EarlyView.
ABSTRACT Background Adenoid Cystic Carcinoma (ACC) is a rare and lethal type of head and neck cancer. Standard therapy involves surgery followed by radiation therapy. The majority of ACC has MYB overexpression and MYB‐NFIB gene fusions, while Notch mutations are associated with aggressive behavior.
Shivani Thoidingjam, Sushmitha Sriramulu, Asya Haider Muratoglu, Stephen Brown, Oudai Hassan, Benjamin Movsas, Haythem Ali, Steven Chang, Patrick Ha, Farzan Siddiqui, Shyam Nyati   +10 more
wiley   +1 more source