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Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report.
JAAD Case Rep
August 2024
Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia.
Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment.
J Pediatr Surg
July 2019
Harvard Medical School, Boston, MA, USA; Division of Pediatric Surgery, Massachusetts General Hospital, Boston, MA, USA.
Purpose: Carmi syndrome is a rare genetic disorder characterized by junctional epidermolysis bullosa (JEB) and pyloric atresia (PA). We reviewed the clinicopathologic and molecular features of patients with Carmi syndrome to identify predictors of clinical outcome and guide surgical PA repair.
Methods: A PRISMA-compliant systematic literature review of PubMed, CINAHL, and the Cochrane Library was performed.
Unfolded Protein Response Pathways in Bloodstream-Form Trypanosoma brucei?
Eukaryot Cell
November 2015
Department of Microbiology and Immunology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, USA
The unfolded protein response (UPR) is a stress mechanism to cope with misfolded proteins in the early secretory pathway, the hallmark being transcriptional upregulation of endoplasmic reticulum (ER) molecular chaperones such as BiP and protein disulfide isomerase. Despite the lack of transcriptional regulation and the absence of the classical UPR machinery, African trypanosomes apparently respond to persistent ER stress by a UPR-like response, including upregulation of BiP, and a related spliced leader silencing (SLS) response whereby SL RNA transcription is shut down. Initially observed by knockdown of the secretory protein translocation machinery, both responses are also induced by chemical agents known to elicit UPR in mammalian cells (H.
View Article and Find Full Text PDFOral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). OFDI is characterized by malformations of the face, oral cavity, and digits. Central nervous system (CNS) abnormalities and cystic kidney disease can also be part of this condition.
View Article and Find Full Text PDFHomozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.
Am J Med Genet A
October 2004
Laboratory of Human Molecular Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
We have recently described a novel autosomal recessive disorder, lethal congenital contractural syndrome type 2 (LCCS2) (OMIM 607598), in a large Israeli Bedouin kindred. The phenotype, which is lethal in the neonatal period, is distinguished by the presence of a markedly distended urinary bladder. Association of LCCS2 to the known loci associated with arthogryposis was excluded.
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