Results 241 to 250 of about 838,175 (338)

Mutually exclusive alternative pre-mRNA splicing promotes adaptive metabolic stress signaling by JNK. [PDF]

Proc Natl Acad Sci U S A
Lee A, Gentzler A, Fitzpatrick D, Raju Ponny S, Aydemir O, Han MS, Lewis CA, Gao G, Davis RJ.   +8 more
europepmc   +1 more source

Structural, Biochemical, and Clinical Characterization of Epidermal Growth Factor Receptor (EGFR) Exon 20 Insertion Mutations in Lung Cancer

Science Translational Medicine, 2013
H. Yasuda, Eunyoung Park, C. Yun, Natasha J. L. Sng, A. Lucena-Araújo, W. Yeo, M. Huberman, David Cohen, Sohei Nakayama, K. Ishioka, N. Yamaguchi, M. Hanna, G. Oxnard, C. Lathan, T. Morán, L. Sequist, J. Chaft, Gregory Riely, M. Arcila, R. Soo, M. Meyerson, M. Eck, Susumu S. Kobayashi, D. Costa   +23 more
semanticscholar   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Epigenetic and Inflammatory Signatures in Familial Mediterranean Fever: Implication of miR-204-3p and miR-223-3p in Pyrin-Mediated Immune Regulation. [PDF]

J Clin Med
Hajiyeva R, Durmus S, Cakatay U, Demirbas KC, Sahin S, Adrovic A, Gelisgen R, Kasapcopur O, Uzun H.   +8 more
europepmc   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases. [PDF]

Mol Genet Metab Rep
Onay H, Kor D, Bulut FD, Burgac EI, Onay B, Kaplan I, Mungan HNO.   +6 more
europepmc   +1 more source

Splicing of a novel androgen receptor exon generates a constitutively active androgen receptor that mediates prostate cancer therapy resistance.

Cancer Research, 2008
S. Dehm, L. Schmidt, H. Heemers, R. Vessella, D. Tindall   +4 more
semanticscholar   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

A novel, minimally invasive diagnostic test for KIT exon 11 internal tandem duplications in canine cutaneous mast cell tumours I: Assay development

Evans JO, Hill LS, Beck S, Edmunds G, Dobromylskyj M, Tornillo G, Smalley MJ.   +6 more
europepmc   +1 more source