Cargando…

Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation

Peroxidasin (PXDN) is a unique peroxidase containing extracellular matrix motifs and stabilizes collagen IV networks by forming sulfilimine crosslinks. PXDN gene knockout in Caenorhabditis elegans (C. elegans) and Drosophila results in the demise at the embryonic and larval stages. PXDN mutations le...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kim, Hyun-Kyung, Ham, Kyung A, Lee, Seung-Woo, Choi, Hong Seok, Kim, Hong-Sug, Kim, Hong Kyung, Shin, Hae-Sol, Seo, Kyoung Yul, Cho, Yejin, Nam, Ki Taek, Kim, In-Beom, Joe, Young Ae
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941041/ https://www.ncbi.nlm.nih.gov/pubmed/31817535 http://dx.doi.org/10.3390/ijms20246144

Ejemplares similares

Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
por: Desai, Jay, et al.
Publicado: (2013)

Anophthalmia and microphthalmia
por: Verma, Amit S, et al.
Publicado: (2007)

An examination of the regulatory mechanism of Pxdn mutation-induced eye disorders using microarray analysis
por: YANG, YANG, et al.
Publicado: (2016)

Dental malformations associated with biallelic MMP20 mutations
por: Wang, Shih‐Kai, et al.
Publicado: (2020)

Evaluation of factors related to Anaesthesia-induced Lens opacity in experimental mice
por: Lee, Hun, et al.
Publicado: (2020)

A girl with sternal malformation/vascular dysplasia association
por: Lee, Na Yong, et al.
Publicado: (2013)

Anorectal Malformations Associated with Esophageal Atresia in Neonates
por: Byun, Shin Yun, et al.
Publicado: (2013)

Bilateral anophthalmia with septo-optic dysplasia
por: Jana, Manisha, et al.
Publicado: (2010)

A Case of Congenital Bilateral Anophthalmia
por: Dwivedi, R.
Publicado: (1949)

Mouse models for microphthalmia, anophthalmia and cataracts
por: Graw, Jochen
Publicado: (2019)

The Molecular Basis of Human Anophthalmia and Microphthalmia
por: Harding, Philippa, et al.
Publicado: (2019)

PXDN reduces autophagic flux in insulin-resistant cardiomyocytes via modulating FoxO1
por: Li, Chan, et al.
Publicado: (2021)

A systematic pan-cancer analysis of PXDN as a potential target for clinical diagnosis and treatment
por: Zhou, Xiaohu, et al.
Publicado: (2022)

Prospective Study on Prophylactic Micafungin Sodium against Invasive Fungal Disease during Neutropenia in Pediatric & Adolescent Patients Undergoing Autologous Hematopoietic Stem Cell Transplantation
por: Kim, Bo-Kyung, et al.
Publicado: (2022)

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma
por: Micheal, Shazia, et al.
Publicado: (2016)

Alpha-ketoglutarate ameliorates abdominal aortic aneurysm via inhibiting PXDN/HOCL/ERK signaling pathways
por: Liu, Junjun, et al.
Publicado: (2022)

Effects of calcium intake, milk and dairy product intake, and blood vitamin D level on osteoporosis risk in Korean adults: analysis of the 2008 and 2009 Korea National Health and Nutrition Examination Survey
por: Hong, Heeok, et al.
Publicado: (2013)

Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation
por: Llorente-González, Sara, et al.
Publicado: (2011)

Congenital Anophthalmia: A Review of Dealing with Volume
por: Bernardino, C. Robert
Publicado: (2010)

RAX and anophthalmia in humans: Evidence of brain anomalies
por: Abouzeid, Hana, et al.
Publicado: (2012)

Outcomes of pediatric acute myeloid leukemia patients with FLT3-ITD mutations in the pre-FLT3 inhibitor era
por: Choi, Sujin, et al.
Publicado: (2020)

Hemophagocytic Lymphohistiocytosis as Initial Presentation of Malignancy in Pediatric Patients: Rare but Not to Be Ignored
por: Han, Hye-ji, et al.
Publicado: (2021)

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma
por: London, Nikolas J.S., et al.
Publicado: (2009)

Parent-of-origin effects in SOX2 anophthalmia syndrome
por: Osborne, Robert J., et al.
Publicado: (2011)

The Effect of Congenital and Acquired Bilateral Anophthalmia on Brain Structure
por: Bridge, Holly, et al.
Publicado: (2021)

Inorganic sulfur reduces cell proliferation by inhibiting of ErbB(2) and ErbB(3) protein and mRNA expression in MDA-MB-231 human breast cancer cells
por: Ha, Ae Wha, et al.
Publicado: (2013)

Favorable outcome of high-dose chemotherapy and autologous hematopoietic stem cell transplantation in patients with nonmetastatic osteosarcoma and low-degree necrosis
por: Hong, Kyung Taek, et al.
Publicado: (2022)

A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome
por: Cho, Eun-Hae, et al.
Publicado: (2012)

Congenital Bilateral Anophthalmia: a Case Report and Review of Literature
por: Halilbasic, Meliha, et al.
Publicado: (2018)

Turner syndrome with spinal hemorrhage due to vascular malformation
por: Yu, Min Kyung, et al.
Publicado: (2015)

More than meets the eye: Longitudinal visual system neurodevelopment in very preterm children and anophthalmia
por: Gravelle, Madelaine N.K., et al.
Publicado: (2020)

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients
por: Basharat, Rabia, et al.
Publicado: (2023)

Stress Induced Cardiomyopathy Requiring Ventricular Assist Device Support in an 8-Year-Old Girl with Acute Leukemia
por: Park, Sang Hee, et al.
Publicado: (2019)

A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
por: Abe, Kazuo, et al.
Publicado: (2022)

Introduction of Supervisor-Type Pediatric Hospitalists in a Tertiary Children’s Hospital: Experiences in a Hematology/Oncology Ward
por: An, Hong Yul, et al.
Publicado: (2023)

Evaluation of the Clinical Data Dictionary (CiDD)
por: Lee, Myung Kyung, et al.
Publicado: (2010)

Uterine arteriovenous malformation caused by intrauterine instrumentation for laparoscopic surgery due to left tubal pregnancy
por: Chang, Kylie Hae-Jin, et al.
Publicado: (2014)

Autophagy Is a Potential Target for Enhancing the Anti-Angiogenic Effect of Mebendazole in Endothelial Cells
por: Sung, So Jung, et al.
Publicado: (2019)

Diabetic ketoacidosis as a presenting symptom of complicated pancreatic cancer
por: Lee, Kyung Ae, et al.
Publicado: (2014)

Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN provides novel insights into colorectal cancer prognosis prediction in Taiwan
por: Su, Jing-Quan, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_pp0e4ijsuk36bffcqm2s3mq0mg