Results 211 to 220 of about 209,375 (270)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Understanding the formation mechanism of crystalline hydrated polymorphs of carbonic acid from CO₂ clathrate hydrate. [PDF]

Chem Sci
Berni S, Scelta D, Romi S, Fanetti S, Alabarse F, Wehinger B, Bini R.   +6 more
europepmc   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse. [PDF]

Front Cell Neurosci
Hofstetter KS, Haas PM, Kuntz JP, Zheng Y, Fuhrmann S.   +4 more
europepmc   +1 more source

Experimental characterization of complex atmospheric flows: A wind turbine wake case study. [PDF]

Sci Adv
Angelou N, Sjöholm M, Mikkelsen TK.
europepmc   +1 more source

Total hip arthroplasty for acute acetabular fractures through the replace-in-situ philosophy : radiological assessment of component stability. [PDF]

Bone Jt Open
Abrahams JM, Ramasamy B, Dong X, Chou DTS, Costi K, Solomon LB, Callary SA.   +6 more
europepmc   +1 more source

Octopus sucker-inspired, Turkish gall extract-integrated microneedle patch for oral ulcer mitigation. [PDF]

iScience
Lin L, Guo S, Zhao C, Dou X, Han W, Song C.   +5 more
europepmc   +1 more source

CRISPR/dCas9-targeted H3K27me3 demethylation at the <i>CUC3</i> boundary gene triggers ectopic transcription and impacts plant development. [PDF]

iScience
Fal K, El Khoury S, Le Masson M, Berr A, Carles CC.   +4 more
europepmc   +1 more source

Rolando Fracture Complication After Nonstandard Surgical Treatment. [PDF]

Cureus
Florek J, Georgiew F, Florek P, Petrovych O, Janowiec S.   +4 more
europepmc   +1 more source