Results 31 to 40 of about 748 (171)
Circular RNA profiling identifies circ102049 as a key regulator of colorectal liver metastasis
Molecular Oncology, Volume 15, Issue 2, Page 623-641, February 2021., 2021 Here, we identify circ102049 as a regulator of metastatic colorectal cancer (CRC). High circ102049 levels were correlated with poor clinical outcomes in patients with CRC and promoted liver metastasis in an FRAS1‐dependent manner. Circ102049 regulated the levels of the FRAS1‐targeting miR‐761 and miR‐192‐3p both directly (acting as a miRNA sponge) and ...
Qiaoming Zhi +9 more
wiley +1 more source
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation [PDF]
, 2021 FREM2 is a member of the FREM2–FRAS1–FREM1 protein complex which contributes to epithelial–mesenchymal coupling. We report a Thai woman with cryptophthalmos, dental anomalies, and oral vestibule defect.
Kantaputra, Piranit Nik +6 more
core +1 more source
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
American Journal of Medical Genetics Part A, Volume 182, Issue 7, Page 1681-1689, July 2020., 2020 Abstract Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates ...
Felix Kunz +10 more
wiley +1 more source
Indian Journal of Ophthalmology, 2022 Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous.
Deepsekhar Das +5 more
doaj +1 more source
Case Reports in Radiology, Volume 2020, Issue 1, 2020., 2020 Congenital high airway obstruction syndrome (CHAOS) is complete or partial obstruction of the fetal upper airway. CHAOS is a rare and fatal condition if no perinatal intervention is done. Antenatal sonographic imaging has typical findings that can help in an early diagnosis, which is important in deciding elective termination of the pregnancy or ...
Ammar Ashraf +4 more
wiley +1 more source
Fraser syndrome without cryptophthalmos: A rare case report
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2015 Fraser syndrome is a rare autosomal recessive multisystem disorder characterized by features such as cryptophthalmos, syndactyly, congenital malformations, and abnormal genitalia.
Jimmy Kishan Sangtani +3 more
doaj +1 more source
Cryptophthalmos in Fraser Syndrome: a case report [PDF]
, 2019 Cryptophthalmos is considered a rare anomaly. Cryptophthalmos describes eyes or an eye covered by continuous sheets of skin which can be complete, incomplete or abortive (congenital symblepharon).
Zimudzi, K, Mangombe, S, Masanganise, R
core +1 more source
Fraser Syndrome – A Dilemma To Parents [PDF]
Pakistan Journal of Medicine and DentistryIn this case report the patient belongs to rural Sindh, with poor prenatal care. She came with her third pregnancy to Ziauddin Hospital referred from interior of Sindh, with the history of previous two premature deliveries due to oligohydramnios ...
Shazia Sultana +4 more
doaj +2 more sources