Results 11 to 20 of about 1,085 (147)

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases [PDF]

Molecular Genetics and Metabolism, 2023
Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG. This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia.
Diederik De Graef
exaly   +6 more sources

Contribution of PGAP3 co‐amplified and co‐overexpressed with ERBB2 at 17q12 involved poor prognosis in gastric cancer [PDF]

Journal of Cellular and Molecular Medicine, 2023
AbstractThe locus at 17q12 erb‐b2 receptor tyrosine kinase 2 (ERBB2) has been heavily amplificated and overexpressed in gastric cancer (GC), but it remains to be elucidated about the clinical significance of the co‐amplification and co‐overexpression of PGAP3 gene located around ERBB2 in GC.
Dong Wang, Siyu Hao, 何洪杰 何
exaly   +4 more sources

A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma [PDF]

Cureus, 2022
Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive disorder caused by glycosylphosphatidylinositol (GPI) deficiency. GPI deficiency results from a mutation in one of six known genes. Mutation in post-GPI attachment to protein phospholipase 3 gene (PGAP3) is linked to HPMRS4.
Alhaidari AI, Albakri AS, Alhumaidi SS.
exaly   +4 more sources

PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development [PDF]

Cells, 2020
Recessive mutations in Post-GPI attachment to proteins 3 (PGAP3) cause the rare neurological disorder hyperphosphatasia with mental retardation syndrome 4 type (HPMRS4).
Sahar I. Da’as, Waleed Aamer, Waseem Hasan, Aljazi Al-Maraghi, Alya Al-Kurbi, Houda Kilani, Jehan AlRayahi, Khaled Zamel, Mitchell A. Stotland, Khalid A. Fakhro   +9 more
doaj   +3 more sources

GPI‐anchoring disorders and the heart: Is cardiomyopathy an overlooked feature? [PDF]

Clinical Genetics, Volume 104, Issue 5, Page 598-603, November 2023., 2023
Glycosylphosphatidylinositol anchoring disorders (GPI‐ADs) are complex neurodevelopmental syndromes with a high risk of premature mortality. We have shown that patients with GPI‐ADs are at risk of developing childhood‐onset cardiomyopathy; an overlooked and potentially fatal feature.
Allan Bayat, Tobias Lindau, Angel Aledo‐Serrano, Antonio Gil‐Nagel, Ivo Barić, Dorotea Bartoniček, Josipa Mateševac, Danijela Petković Ramadža, Tamara Žigman, Silvija Pušeljić, Sanja Dorner, Caleb Bupp, Seth Devries, Rikke Steensbjerre Møller   +13 more
wiley   +3 more sources

Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype–Phenotype Insights in a Vietnamese Cohort [PDF]

Diagnostics
Background: Intellectual disability (ID) is a heterogeneous condition caused by diverse genetic factors, including single-nucleotide variants (SNVs) and copy number variants (CNVs).
Thu Lan Hoang, Thi Kim Phuong Doan, Thi Ngoc Lan Hoang, Cam Tu Ho, Thi Ha Vu, Thi Trang Nguyen, Thi Huyen Vu, Thi Trang Dao, Thi Minh Ngoc Nguyen, Phuong Mai Nguyen, Huu Duc Anh Nguyen, Chi Dung Vu, Phuong Thao Do, Quang Phuc Pham, Quang Trung Nguyen, Thi Phuong Mai Nguyen, Thi Thuy Ninh To, Hoa Giang, Thi Lan Anh Luong   +18 more
doaj   +2 more sources

Multi-dimensional evidence establishing the causal association between metabolic syndrome and gout and the molecular mechanisms of comorbidity [PDF]

Frontiers in Immunology
ObjectiveTo systematically evaluate the causal association between metabolic syndrome (MetS) and its components with gout through integrated multi-dimensional methods, and reveal the genetic basis and transcriptomic characteristics of comorbidity ...
Jianbin Li, Jianbin Li, Jiamin Zhang, Jiamin Zhang, Suiran Li, Suiran Li, Xiaoge Yao, Xiaoge Yao, Renhe Li, Renhe Li, Wei Liu, Wei Liu   +11 more
doaj   +2 more sources

Non-HLA Risk Loci ERBB3/IKZF4 and ERBB2/IKZF3/GSDMB/ORMDL3 Interact to Influence Progression of Autoimmunity in Relatives of T1D Patients. [PDF]

Diabetes Metab Res Rev
ABSTRACT Aim The genetic loci, ERBB2/IKZF3/GSDMB/ORMDL3 on chromosome 17q, and ERBB3/IKZF4 on chromosome 12q represent confirmed non‐HLA risk factors for the development of autoimmunity and progression to type 1 diabetes (T1D). It is unknown whether both regions can interact to influence the progression of T1D.
Mertens IM, Keymeulen B, Gorus FK, Van De Casteele M, Belgian Diabetes Registry.   +4 more
europepmc   +2 more sources

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review [PDF]

Frontiers in Pediatrics
Recently, mutations have been identified in six genes (PIGA, PIGY, PIGO, PGAP2, PIGW and PGAP3) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual ...
Yijun Pan, Bin Ren, Lijuan Chen, Qiang Li   +3 more
doaj   +2 more sources

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 982-984, April 2026.
Carli Loubser, Shahida Moosa
wiley   +3 more sources