Results 41 to 50 of about 48,388 (151)

Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development

Nature Communications, 2023
Cardiac neural crest must differentiate and migrate correctly to achieve proper cardiovascular development. Here, the authors use single cell analyses to show how these cells are altered non-autonomously by loss of Tbx1, the major gene for 22q11.2 ...
Christopher De Bono, Yang Liu, Alexander Ferrena, Aneesa Valentine, Deyou Zheng, Bernice E. Morrow   +5 more
doaj   +1 more source

Dystrophic Calcinosis in a Patient with Scleroderma: Imaging Findings and Literature Review

Journal of Mazandaran University of Medical Sciences, 2020
Subcutaneous calcinosis consists of abnormal calcium deposition in soft tissues and is one of the complications of scleroderma, especially in limited systemic sclerosis.
Maryam Mobini, Elham Sadat Banimostafavi, Mehran Razavipour   +2 more
doaj  

Myelodysplastic Syndrome: Riding the Crest of the Wave

Journal of Clinical Medicine, 2022
Myelodysplastic syndrome (MDS) is a group of clonal disorders that arise in pluripotent bone marrow stem cells and present with characteristic phenotypical features (both morphological and flow cytometrical), as well as genotypical abnormalities [...]
openaire   +2 more sources

A Case Study of Two Siblings of Waardenburg Syndrome

Delhi Journal of Ophthalmology, 2019
Waardenburg syndrome is a rare genetically heterogenous disorder of neural crest cell development. Six distinctive features comprising this syndrome include: (1) telecanthus, (2) broad nasal root, (3) synophrys of the eyebrows, (4) a white forelock, (5 ...
Kritika Katoch, Indu Dhiman, Gaurav Sharma   +2 more
doaj   +1 more source

Systemic sclerosis

Indian Journal of Dental Research, 2007
Systemic sclerosis (scleroderma) is a rare generalized disorder of connective tissue origin. This condition is predominantly a clinical diagnosis, based on the clinical signs and symptoms.
Ahathya R, Deepalakshmi D, Emmadi Pamela
doaj  

Síndrome de CREST e hipertensão pulmonar: prognóstico sombrio.

Acta Médica Portuguesa, 2004
The CREST syndrome initially described as a limited, more indolent form of diffuse scleroderma, is characterized by calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasias.
Ana C Carneiro, Isabel P Barbosa, F Carneiro Chaves   +2 more
doaj   +1 more source

Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development

Stem Cell Reports, 2019
Summary: The neural crest (NC) gives rise to a multitude of fetal tissues, and its misregulation is implicated in congenital malformations. Here, we investigated molecular mechanisms pertaining to NC-related symptoms in Bohring-Opitz syndrome (BOS), a ...
Friederike Matheus, Ejona Rusha, Rizwan Rehimi, Lena Molitor, Anna Pertek, Miha Modic, Regina Feederle, Andrew Flatley, Elisabeth Kremmer, Arie Geerlof, Valentyna Rishko, Alvaro Rada-Iglesias, Micha Drukker   +12 more
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Pulmonary hypertension in patients with systemic sclerosis with CREST-syndrome and without it

Терапевтический архив, 2004
Aim. To study incidence rate and characteristics of pulmonary hypertension development in patients with systemic sclerosis (SS). Material and methods.
N A Karoli, A P Rebrov, E E Orlova
doaj  

The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function

Nature Communications
ANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a causative gene for KBG syndrome, a rare developmental disorder characterized by multiple organ abnormalities, including cardiac defects.
Yana Kibalnyk, Elia Afanasiev, Ronan M. N. Noble, Adrianne E. S. Watson, Irina Poverennaya, Nicole L. Dittmann, Maria Alexiou, Kara Goodkey, Amanda A. Greenwell, John R. Ussher, Igor Adameyko, James Massey, Daniel Graf, Stephane L. Bourque, Jo Anne Stratton, Anastassia Voronova   +15 more
doaj   +1 more source

Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis

Frontiers in Physiology, 2019
Wolf-Hirschhorn Syndrome (WHS) is a human developmental disorder arising from a hemizygous perturbation, typically a microdeletion, on the short arm of chromosome four.
Alexandra Mills, Elizabeth Bearce, Rachael Cella, Seung Woo Kim, Megan Selig, Sangmook Lee, Laura Anne Lowery   +6 more
doaj   +1 more source