Results 21 to 30 of about 46,735 (152)

CREST syndrome [PDF]

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

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
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source

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
doaj  

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
doaj   +1 more source

Modularity patterns in mammalian domestication: Assessing developmental hypotheses for diversification

Evolution Letters, 2021
The neural crest hypothesis posits that selection for tameness resulted in mild alterations to neural crest cells during embryonic development, which directly or indirectly caused the appearance of traits associated with the “domestication syndrome” (DS).
Laura A. B. Wilson, Ana Balcarcel, Madeleine Geiger, Laura Heck, Marcelo R. Sánchez‐Villagra   +4 more
doaj   +1 more source

Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers

Stem Cell Research, 2023
Waardenburg syndrome type 1 (WS1), a rare genetic disease characterized by pigmentation defects and mild craniofacial anomalies often associated with congenital deafness is caused by heterozygous mutations in the PAX3 gene (2q36.1). We have generated two
Mansour Alkobtawi, Patrick Pla, Brigitte Onteniente, Subham Seal, Véronique Pingault, Sandrine Marlin, Anne H. Monsoro-Burq   +6 more
doaj   +1 more source

Aebp2 as an epigenetic regulator for neural crest cells. [PDF]

PLoS ONE, 2011
Aebp2 is a potential targeting protein for the mammalian Polycomb Repression Complex 2 (PRC2). We generated a mutant mouse line disrupting the transcription of Aebp2 to investigate its in vivo roles.
Hana Kim, Keunsoo Kang, Muhammad B Ekram, Tae-Young Roh, Joomyeong Kim   +4 more
doaj   +1 more source