Results 91 to 100 of about 2,561,602 (268)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Engineering Tertiary Lymphoid Structures: Nanomedicine, Bioengineering, and Biomaterials for Precision Immunotherapy

Advanced NanoBiomed Research, EarlyView.
This review explains how biomaterials and nanoparticles can be used to induce or modulate tertiary lymphoid structures (TLSs), which are ectopic immune hubs that form in nonlymphoid tissues during chronic disease and cancer. By comparing different methods, the article highlights design principles for modeling TLSs or recapitulating specific TLS ...
Shaza Karaman, Mei ElGindi, Jeremy Teo
wiley   +1 more source

Dis3l2 is essential for neural crest survival by modulating Akt signaling

Cell Communication and Signaling
DIS3-like 3’-5’ exoribonuclease 2 (DIS3L2), an exoribonuclease, is known to preferentially degrade uridylated RNA substrates, miRNAs, and ncRNAs. Recent reports show that DIS3L2 also plays a key role in cell proliferation and tumor growth.
Sian D’Silva, Tuhina Prasad, Megha Kumar   +2 more
doaj   +1 more source

The neural crest/domestication syndrome hypothesis, explained: reply to Johnsson, Henriksen, and Wright.

Genetics, 2021
A. Wilkins, R. Wrangham, W. Fitch
semanticscholar   +1 more source

Evaluation of IHH, PTCH1, and SMO protein immunohistochemistry in the human mandibular condyle at fetal stages from 30 to 80 mm greatest length

The Anatomical Record, EarlyView.
Abstract This study evaluated the morphogenesis of the temporomandibular joint (TMJ) in human fetuses during the third month of gestation through the analysis of immunohistochemistry for the proteins Indian Hedgehog (IHH), Patched‐1 (PTCH1), and Smoothened (SMO).
Filipe Santos da Silva, Carolina de Oliveira Gigek, Andreia Fabiana Do Vale Franco, Amanda Alves Ribeiro Massoni, José Ramon Mérida‐Velasco, Luís Otávio Carvalho de Moraes   +5 more
wiley   +1 more source

Síndrome de CREST. Presentación de un caso CREST syndrome. Presentation of a case

Revista Médica Electrónica, 2010
Como esclerodermia, se designa un grupo de enfermedades y síndromes que tienen como característica común la induración y el engrosamiento cutáneos.
Yanet Acosta Piedra, Blanca Piedra Herrera, Teresa Suárez Díaz, Omara Bandera Rodríguez, Yuniel Arocha Molina   +4 more
doaj  

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Placode and neural crest origins of congenital deafness in mouse models of Waardenburg-Shah syndrome

iScience
Summary: Mutations in the human genes encoding the endothelin ligand-receptor pair EDN3 and EDNRB cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment. The current explanation for auditory dysfunction is defective migration
Jaime Tan, Alicia Duron, Henry M. Sucov, Takako Makita   +3 more
doaj   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

A Randomized, Placebo‐Controlled Trial of Hydroxychloroquine in Incomplete Lupus

Arthritis &Rheumatology, EarlyView.
Objective Patients with features of systemic lupus erythematosus (SLE) who do not fulfill classification criteria can be designated as incomplete lupus erythematosus (ILE). This condition includes individuals with a high risk of progression to SLE. Treatment of ILE may reduce symptoms, severity, and incidence of SLE.
Nancy J. Olsen, Duanping Liao, Judith A. James, Joel M. Guthridge, Cristina Arriens, Diane Kamen, Mariko Ishimori, Daniel J. Wallace, Christopher Striebich, Sonali Narain, Benjamin F. Chong, Fan He, Eric W. Schaefer, Vernon M. Chinchilli, David R. Karp   +14 more
wiley   +1 more source