Results 181 to 190 of about 176,215 (308)

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype. [PDF]

Orphanet J Rare Dis
Huang M, Wei Q, Qin Y, Qin L, Shao Y, Wang S, Qu X, Yang T, Zhang M.   +8 more
europepmc   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

High-Dose Furmonertinib Management of Advanced NSCLC Harboring an EGFR Exon 14 Missense Mutation: A Case Report and Literature Review. [PDF]

Am J Case Rep
Luo JY, Xiang J, Hong XL, Wang Z.
europepmc   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Kdf1 missense mutation caused enamel defects by disrupting cell adhesion and Hippo-YAP signaling in dental epithelium. [PDF]

Int J Oral Sci
Li P, Zeng R, Xue J, Song Y, Wu J, Zeng B, Lin L, Yu D, Zhao W.   +8 more
europepmc   +1 more source

Missense-Mutation [PDF]

, 2018
openaire   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Gene therapy rescues cone function in an all-cone retina mouse model with the most common cone opsin C203R missense mutation. [PDF]

PLoS One
Cahill ME, Chmelik K, Brothers BA, Ashcraft ME, Guan T, Puja A, Xiang Y, Shaw LM, Du J, Deng WT.   +9 more
europepmc   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source