Results 21 to 30 of about 48,388 (151)

Genetics Underlying the Interactions between Neural Crest Cells and Eye Development

Journal of Developmental Biology, 2020
The neural crest is a unique, transient stem cell population that is critical for craniofacial and ocular development. Understanding the genetics underlying the steps of neural crest development is essential for gaining insight into the pathogenesis of ...
Jochen Weigele, Brenda L. Bohnsack
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A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome

Endocrinology, Diabetes & Metabolism Case Reports, 2021
The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH ...
Tetsuji Wakabayashi, Akihito Takei, Nobukazu Okada, Miki Shinohara, Manabu Takahashi, Shuichi Nagashima, Kenta Okada, Ken Ebihara, Shun Ishibashi   +8 more
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Case Report of a Difficult Airway due to Calcinosis Cutis Universalis: An Anaesthesiologist Perspective [PDF]

Journal of Clinical and Diagnostic Research
Difficult airway is defined as a situation where a trained anaesthesiologist encounters challenges in either face mask ventilation, tracheal intubation, or both, as stated by the American Society of Anaesthesiologists. A case of a difficult airway due to
Priyadharshini Srinivasan, Venkatraman Rajagopalan   +1 more
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Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis

Journal of Developmental Biology, 2020
Craniofacial anomalies are among the most common of birth defects. The pathogenesis of craniofacial anomalies frequently involves defects in the migration, proliferation, and fate of neural crest cells destined for the craniofacial skeleton.
Erica M. Siismets, Nan E. Hatch
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CREST syndrome [PDF]

Postgraduate Medical Journal, 2020
Ashok Kumar, Ashish Sharma, Anunay Agarwal   +2 more
  +6 more sources

Uncommon skeletal findings in systemic sclerosis (scleroderma)

South African Journal of Radiology, 2002
Scleroderma or progressive systemic sclerosis is a diffuse disease characterised by excessive deposition of collagen and small-vessel arteritis. Systemic sclerosis is divided into two groups. 1.
Betsie van der Walt, Irma van de Werke, Zarina Lockhat   +2 more
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CREST Syndrome in Systemic Sclerosis Patients – Is Dystrophic Calcinosis a Key Element to a Positive Diagnosis?

Journal of Inflammation Research, 2022
Carmen Bobeica,1,* Elena Niculet,1,2 Mihaela Craescu,1 Elena-Laura Parapiru,3,* Carmina Liana Musat,1,* Ciprian Dinu,4,* Iulia Chiscop,5,* Luiza Nechita,3,* Mihaela Debita,6,* Victorita Stefanescu,6,* Ioana Anca Stefanopol,
Bobeica C, Niculet E, Craescu M, Parapiru EL, Musat CL, Dinu C, Chiscop I, Nechita L, Debita M, Stefanescu V, Stefanopol IA, Nechifor A, Pelin AM, Balan G, Chirobocea S, Vasile CI, Tatu AL   +16 more
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CREST Syndrome

Turkish Journal of Dermatology / Türk Dermatoloji Dergisi, 2012
We report a case of CREST syndrome (calsinosis cubs, Raynaud's phenomenon, oesophageal dysmotillW, sclerodactyly and telangiectasia) with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet.
SARAÇOĞLU, ZEYNEP NURHAN, Sabuncu, Ilham, KORKMAZ, CENGİZ, Koku-Aksu, Ayse Esra, Koksuz, Tugce q   +4 more
openaire   +2 more sources

Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors.

PLoS Biology
Neurocristopathies such as CHARGE syndrome result from aberrant neural crest development. A large proportion of CHARGE cases are attributed to pathogenic variants in the gene encoding CHD7, chromodomain helicase DNA binding protein 7, which remodels ...
Ruth M Williams, Guneş Taylor, Irving T C Ling, Ivan Candido-Ferreira, Daniel M Fountain, Sarah Mayes, Perihan Seda Ateş-Kalkan, Julianna O Haug, Andrew J Price, Sean A McKinney, Yavor K Bozhilovh, Richard C V Tyser, Shankar Srinivas, Jim R Hughes, Tatjana Sauka-Spengler   +14 more
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On the Potential Role of the Neural Crest Cells in Integrating Pigmentation Into Behavioral and Physiological Syndromes

Frontiers in Ecology and Evolution, 2020
Melanin pigments color the integument of vertebrates with shades of rufous, gray, and black. In numerous wild species, melanin-based coloration associates to different behavioral, physiological, and morphological traits, yet the proximate basis of such ...
Luis M. San-Jose, Alexandre Roulin
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