Syndromic craniosynostosis

2021 ◽  
pp. 713-720
Author(s):  
Stephen Dover ◽  
Martin Evans
Keyword(s):  
Growth And Development ◽  
Growth Factor Receptor ◽  
Multidisciplinary Care ◽  
Complex Interaction ◽  
Genetic Mutations ◽  
Secondary Effects ◽  
Syndromic Craniosynostosis ◽  
Cellular Events ◽  
Transition Into Adulthood ◽  
Craniofacial Syndromes

Syndromic craniosynostoses result from a complex interaction between genetic factors, molecular and cellular events, as well as mechanical and deformational forces. They can all have secondary effects on growth and development. Approximately 180 craniofacial syndromes have been identified and it is thought that about 15% of all craniosynostoses are syndromic. They are due to genetic mutations and among the most common are mutations in the fibroblast growth factor receptor 2 gene (FGFR2). Multidisciplinary care for craniofacial patients is considered the optimal model of care and is based on the concept of management during childhood, the transition into adulthood, and finally support and treatment throughout adulthood.

scholarly journals Apoptosis, guardian of the genome: Review

2021 ◽  
Vol 5 (1) ◽  
pp. 037-054
Author(s):  
Ahmad Mohammad Khalil
Keyword(s):  
Cell Death ◽  
Growth And Development ◽  
Scientific Community ◽  
Direct Result ◽  
Life And Death ◽  
Cellular Events ◽  
Response To Stress ◽  
Biochemical Mechanisms ◽  
Number Of Publications ◽  
Multicellular Organisms

Apoptosis has attracted great attention in the last two decades and the number of publications related to apoptosis has been growing exponentially. The revolution that has occurred in apoptosis research is a direct result of a better understanding of the genetic program and biochemical mechanisms of apoptosis. Apoptosis is not only a common normal event but also essential for the growth and development of organisms. In the adult, apoptosis is mostly abnormal, but in its absence or failure cancer cells obtain immortality by escaping this type of cell death. Apoptosis works synergistically in intrinsic and extrinsic pathways. The first pathway is initiated by the cell itself in response to stress. The second is initiated via death receptors stimulated by cells of the immune system. This review is an attempt to answer questions like: Why is cell death important to study? How cells undergo apoptosis? What controls the decision between life and death? Which cellular events could cause the control of apoptosis to be impaired? The literature cited below shows some sort of unity in the scientific community on the necessity of a sophisticated balance between “pro-survival” and “pro-death” forces to ensure the happiness of cells in multicellular organisms

scholarly journals c-mos and cdc2 Cooperate in the Translational Activation of Fibroblast Growth Factor Receptor-1 duringXenopus Oocyte Maturation

1999 ◽  
Vol 10 (11) ◽  
pp. 3567-3581 ◽  
Author(s):  
Patricia A. Culp ◽  
Thomas J. Musci
Keyword(s):  
Cell Cycle ◽  
Oocyte Maturation ◽  
Growth Factor Receptor ◽  
Cyclin B ◽  
Meiotic Cell ◽  
Fgf Receptor ◽  
Maternal Mrna ◽  
Mapk Activity ◽  
Cellular Events ◽  
Translational Activation

During oocyte maturation in Xenopus, previously quiescent maternal mRNAs are translationally activated at specific times. We hypothesized that the translational recruitment of individual messages is triggered by particular cellular events and investigated the potential for known effectors of the meiotic cell cycle to activate the translation of the FGF receptor-1 (XFGFR) maternal mRNA. We found that both c-mos and cdc2 activate the translation of XFGFR. However, although oocytes matured by injection of recombinant cdc2/cyclin B translate normal levels of XFGFR protein, c-mos depletion reduces the level of XFGFR protein induced by cdc2/cyclin B injection. In oocytes blocked for cdc2 activity, injection of mos RNA induced low levels of XFGFR protein, independent of MAPK activity. Through the use of injected reporter RNAs, we show that the XFGFR 3′ untranslated region inhibitory element is completely derepressed by cdc2 alone. In addition, we identified a new inhibitory element through which both mos and cdc2 activate translation. We found that cdc2 derepresses translation in the absence of polyadenylation, whereas mos requires poly(A) extension to activate XFGFR translation. Our results demonstrate that mos and cdc2, in addition to functioning as key regulators of the meiotic cell cycle, cooperate in the translational activation of a specific maternal mRNA during oocyte maturation.

scholarly journals Clinical variability in patients with Apert's syndrome

1999 ◽  
Vol 6 (1) ◽  
pp. E1
Author(s):  
Elisabeth Lajeunie ◽  
Rhoda Cameron ◽  
Vincent El Ghouzzi ◽  
Nathalie de Parseval ◽  
Pierre Journeau ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Fibroblast Growth Factor Receptor ◽  
Growth Factor Receptor ◽  
Specific Region ◽  
Genetic Mutations ◽  
Rare Mutation ◽  
Clinical Variability ◽  
Apert's Syndrome ◽  
Double Base ◽  
Adjacent Amino Acid

Object Apert's syndrome is characterized by faciocraniosynostosis and severe bony and cutaneous syndactyly of all four limbs. The molecular basis for this syndrome appears remarkably specific: two adjacent amino acid substitutions (either S252W or P253R) occurring in the linking region between the second and third immunoglobulin domains of the fibroblast growth factor receptor (FGFR)2 gene. The goal of this study was to examine the phenotype/genotype correlations in patients with Apert's syndrome. Methods In the present study, 36 patients with Apert's syndrome were screened for genetic mutations. Mutations were detected in all cases. In one of the patients there was a rare mutation consisting of a double-base pair substitution in the same codon (S252F). A phenotypical survey of our cases was performed and showed the clinical variability of this syndrome. The P253R mutation appears to be associated with the more severe forms of Apert's syndrome with regard to the forms of syndactyly and to mental outcome. In two patients there was no clinical or radiological evidence of craniosynostosis. In two other patients with atypical forms of syndactyly and cranial abnormalities, the detection of a specific mutation was helpful in making the diagnosis. Conclusions The fact that mutations found in patients with Apert's syndrome are usually confined to a specific region of the FGFR2 exon IIIa may be useful in making a diagnosis.

scholarly journals Ocular biometric features of pediatric patients with fibroblast growth factor receptor-related syndromic craniosynostosis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Byung Joo Lee ◽  
Kihwang Lee ◽  
Seung Ah Chung ◽  
Hyun Taek Lim
Keyword(s):  
Growth Factor ◽  
Fibroblast Growth Factor ◽  
Refractive Error ◽  
Fibroblast Growth Factor Receptor ◽  
Growth Factor Receptor ◽  
Fibroblast Growth ◽  
Biometric Parameters ◽  
Syndromic Craniosynostosis ◽  
Lens Power ◽  
Biometric Features

AbstractAmetropia is reported as a common ophthalmic manifestation in craniosynostosis. We retrospectively compared childhood refractive error and ocular biometric features of fibroblast growth factor receptor (FGFR)-related syndromic craniosynostosis patients with those of non-syndromic craniosynostosis and control subjects. Thirty-six eyes (18 patients) with FGFR-related syndromic craniosynostosis, 76 eyes (38 patients) with non-syndromic craniosynostosis, and 114 eyes (57 patients) of intermittent exotropes were included in the analysis. Mean age at examination was 7.82 ± 2.51 (range, 4–16) years and mean spherical equivalent was -0.09 ± 1.46 Diopter. Mean age and refractive error were not different between groups, but syndromic craniosynostosis patients had significantly longer axial length, lower corneal power, and lower lens power than other groups (p < 0.01, p < 0.01, and p < 0.01, respectively). Axial length was positively correlated and keratometry and lens power were negatively correlated with age in non-syndromic craniosynostosis and controls, while these correlations between age and ocular biometric parameters were not present in the FGFR-related syndromic craniosynostosis. In conclusion, ocular biometric parameters in FGFR-related syndromic craniosynostosis differed from those of non-syndromic craniosynostosis and age-matched controls, and did not show the relations with age, suggesting this cohort may have abnormal refractive growth.

scholarly journals Clear Cell Sarcoma of the Kidney

2019 ◽  
Vol 143 (8) ◽  
pp. 1022-1026 ◽  
Author(s):  
Sze Jet Aw ◽  
Kenneth Tou En Chang
Keyword(s):  
Nerve Growth Factor ◽  
Clear Cell ◽  
Growth Factor Receptor ◽  
Clear Cell Sarcoma ◽  
Accurate Diagnosis ◽  
Egfr Mutations ◽  
Genetic Mutations ◽  
Cell Sarcoma ◽  
Molecular Studies ◽  
Tandem Duplications

Clear cell sarcoma of the kidney is the second most common primary renal malignancy in childhood. It is histologically diverse, making accurate diagnosis challenging in some cases. Recent molecular studies have uncovered BCOR exon 15 internal tandem duplications in most cases, and YWHAE-NUTM2 fusion in a few cases, with the remaining cases having other genetic mutations, including BCOR-CCNB3 fusion and EGFR mutations. Although clear cell sarcoma of the kidney has no specific immunophenotype, several markers including cyclin D1, nerve growth factor receptor, and BCOR (BCL6 corepressor) have emerged as potential diagnostic aides. This review provides a concise account of recent advances in our understanding of clear cell sarcoma of the kidney to serve as a practical update for the practicing pathologist.

N-glycans of growth factor receptors: their role in receptor function and disease implications

2016 ◽  
Vol 130 (20) ◽  
pp. 1781-1792 ◽  
Author(s):  
Motoko Takahashi ◽  
Yoshihiro Hasegawa ◽  
Congxiao Gao ◽  
Yoshio Kuroki ◽  
Naoyuki Taniguchi
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor ◽  
Cell Signalling ◽  
Growth Factor Receptor ◽  
Transforming Growth Factor Β ◽  
Cellular Events ◽  
Functional Regulation ◽  
Epidermal Growth ◽  
Β Receptor ◽  
Novel Strategy

Numerous signal-transduction-related molecules are secreted proteins or membrane proteins, and the mechanism by which these molecules are regulated by glycan chains is a very important issue for developing an understanding of the cellular events that transpire. This review covers the functional regulation of epidermal growth factor receptor (EGFR), ErbB3 and the transforming growth factor β (TGF-β) receptor by N-glycans. This review shows that the N-glycans play important roles in regulating protein conformation and interactions with carbohydrate recognition molecules. These results point to the possibility of a novel strategy for controlling cell signalling and developing novel glycan-based therapeutics.

scholarly journals Neurotransmitters and neuromodulators involved in learning and memory

2019 ◽  
Vol 8 (12) ◽  
pp. 2777
Author(s):  
Laxminarayana Kurady Bairy ◽  
Suresh Kumar
Keyword(s):  
Learning And Memory ◽  
Complex Interaction ◽  
Aminobutyric Acid ◽  
Long Term Memory ◽  
Psychological Interventions ◽  
Gamma Aminobutyric Acid ◽  
Storage And Retrieval ◽  
Cellular Events

Learning and memory being highly specialized process of human brain involves complex interaction between neurotransmitters and cellular events. Over the years, the understandings of these processes have been evolving from psychological, neurophysiological, and pharmacological perspectives. The most widely appraised model of learning and memory involves attention, acquisition, storage and retrieval. Each of these events involve interplay of neurotransmitters such as dopamine, acetylcholine, norepinephrine, N-methyl-d-aspartic acid, gamma-aminobutyric acid, though preponderance of specific neurotransmitter have been documented. The formation of long-term memory involves cellular events with neuroplasticity. Further, dopamine is documented to play crucial role in the process of forgetting. Understanding of the processes of learning and memory not only facilitates drug discovery, but also helps to understand actions of several existing drugs. In addition, it would also help to enhance psychological interventions in children with learning disabilities. Thus, the review intends to summarize role of neurotransmitters and neuromodulators during different phases of learning and memory.

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