Results 111 to 120 of about 141,568 (257)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Ontogeny of ependymoglial cells lining the third ventricle in mice. [PDF]

Front Endocrinol (Lausanne), 2022
Lopez-Rodriguez D, Rohrbach A, Lanzillo M, Gervais M, Croizier S, Langlet F.   +5 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Third-ventricle cholesterol granuloma: An exceptional intraventricular localization. [PDF]

Surg Neurol Int
Sette Dos Santos MT, Neres Targino M, Krutman Zveibil D, Borghi Camacho de Moraes S, Magalhães Farias JP, Cerqueira Gonzales G, Nunes de Oliveira Junior A, Oliveira Sette Dos Santos A.   +7 more
europepmc   +1 more source

Raphe Nuclei Echogenicity and Diameter of Third Ventricle in Schizophrenia Measured by Transcranial Sonography. [PDF]

Basic Clin Neurosci, 2023
Mahdiar M, Mohammadzade N, Homayooni A, Haji Akhoundi F, Kashaninasab F, Zamani B, Shariat SV, Shalbafan M, Rohani M.   +8 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Surgical strategies and long-term survival for third ventricle chordoid gliomas: a systematic review and clinical algorithm. [PDF]

Neurosurg Rev
Alomari O, Güney B, Uslu I, Sulaimanov U, Serikkanov Y, Sanlier N, Ozturk O, Keles A, Erginoglu U, Snyder B, Bhatia A, Baskaya MK.   +11 more
europepmc   +1 more source

Extensive cerebral venous thrombosis after resection of third ventricle colloid cyst. [PDF]

Surg Neurol Int, 2023
Kajtazi NI, Al Ghamdi J, Al Amoudi R, Zakri A, Al Shakweer W, Bafaquh M.   +5 more
europepmc   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

Ultrasound Assessment of the Third Ventricle Diameter: Agreement With CT Results in the Pediatric Population. [PDF]

Crit Care Explor
Dehbi S, Zeghari Z, Es-Sebbani C, Ettouhami B, El Haddad S, Abouqal R, Bentalha A, Ech Cherif El Kettani S.   +7 more
europepmc   +1 more source