Results 131 to 140 of about 1,085 (147)
Enhanced response of T lymphocytes from Pgap3 knockout mouse : Insight into roles of fatty acid remodeling of GPI anchored proteinsopenaire
Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3 [PDF]
Journal of Pediatric Genetics, 2017 AbstractHyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGAP3 was identified using whole-exome sequencing.
Sheela Nampoothiri +2 more
exaly +3 more sources
Some of the next articles are maybe not open access.
Pathology Research and Practice, 2023
Breast cancer (BC) stands as the most prevalent malignancy among women and ranks as the second most frequently diagnosed cancer globally among newly identified cases. Post-GPI attachment to proteins factor 3（PGAP3）was reported to involve in lipid remodeling. However, its specific role in breast cancer remains inadequately elucidated.
Mingyang Li
exaly +3 more sources
Breast cancer (BC) stands as the most prevalent malignancy among women and ranks as the second most frequently diagnosed cancer globally among newly identified cases. Post-GPI attachment to proteins factor 3（PGAP3）was reported to involve in lipid remodeling. However, its specific role in breast cancer remains inadequately elucidated.
Mingyang Li
exaly +3 more sources
A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum [PDF]
Human Genome Variation, 2018 Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a
Tamara Žigman +2 more
exaly +8 more sources
Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation [PDF]
American Journal of Human Genetics, 2014 Glycosylphophatidylinositol (GPI)-anchored proteins play important roles in many biological processes, and mutations affecting proteins involved in the synthesis of the GPI anchor are reported to cause a wide spectrum of intellectual disabilities (IDs) with characteristic additional phenotypic features.
Yoshiko Murakami +2 more
exaly +5 more sources
Human Cell, 2021
Cervical cancer (CC) is still an intractable disease that seriously affects women's health. Elucidating its pathogenesis will bring new targets for clinical treatment. Circular RNA (circRNA) is an endogenous RNA that has recently been reported to be closely related to cancer progression and development.
Tian, Jun +4 more
exaly +3 more sources
Cervical cancer (CC) is still an intractable disease that seriously affects women's health. Elucidating its pathogenesis will bring new targets for clinical treatment. Circular RNA (circRNA) is an endogenous RNA that has recently been reported to be closely related to cancer progression and development.
Tian, Jun +4 more
exaly +3 more sources
Biochemical and Biophysical Research Communications, 2012
Glycosylphosphatidylinositol (GPI) is a complex glycolipid that serves as a membrane anchor for many cell-surface proteins, such as Thy-1 and CD48. GPI-anchored proteins (GPI-APs) play important roles in many biological processes, such as signal transduction and cell-cell interaction, through their association with lipid rafts. Fatty acid remodeling of
Yusuke Maeda +2 more
exaly +3 more sources
Glycosylphosphatidylinositol (GPI) is a complex glycolipid that serves as a membrane anchor for many cell-surface proteins, such as Thy-1 and CD48. GPI-anchored proteins (GPI-APs) play important roles in many biological processes, such as signal transduction and cell-cell interaction, through their association with lipid rafts. Fatty acid remodeling of
Yusuke Maeda +2 more
exaly +3 more sources
Annals of Indian Academy of NeurologyAbstract Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare genetic disorder characterized by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies with elevated alkaline phosphatase.
Şeyda, Beşen +3 more
exaly +3 more sources
Clinical Genetics, 2017
BackgroundHyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3.Materials and MethodsWe describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and ...
M.S. Abdel‐Hamid +5 more
openaire +2 more sources
BackgroundHyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3.Materials and MethodsWe describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and ...
M.S. Abdel‐Hamid +5 more
openaire +2 more sources