The Genetics and Learning Disorders of the Syndromes Involving Craniosynostosis

Prenatal genetic vehicles that lead to facial and cranial dysmorphias, specifically craniosynostosis, are seen in a spectrum of synostotic syndromes that include apert, crouzon, Kleeblattschadel deformity, saethre-chotzen, muenke, cranio-fronto-nasal syndrome, Robinow-Sorauf syndrome and beare-stevenson-cutis-gyrata syndrome. Specific genes involved in cranio-synostotic syndromes include: TWIST1, EFNB1, GLI2, DMD, YWHAE, IRAK2, FGFR1, FGFR2, FGFR3, CNTNAP2, ADAMTS18, SKI, MECP2, KIFBP, TCF12, H2AL1P, GAGE12D and possibly HDAC9. Regarding protein expression, conserved domains found in rpsblast for craniosynostosis using the NCBI homologene tool show IGc2 (smart00408) immunoglobulin C-2 Type, PKc_like (cl09925) Protein Kinases, catalytic domain, Ig (cl11960) Immunoglobulin domain. A discussion of all the syndromes involving craniosynostosis is beyond the scope of this paper. We will discuss the clinical features, genetics, cognitive development and associated psychiatric conditions of the more common syndromes involving craniosynostosis. We theorize that the clinical features and genetics of craniosynostosis involve a spectrum of syndromes on which there is variable severity and involvement of impaired cognition and developmental disorders.

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Disorders of Development

The Oxford Handbook of Clinical Psychology ◽

10.1093/oxfordhb/9780195366884.013.0025 ◽

2010 ◽

pp. 551-574

Author(s):

V. Mark Durand

Keyword(s):

Pervasive Developmental Disorders ◽

Developmental Disorders ◽

Early Adulthood ◽

Learning Disorders ◽

Future Research ◽

Hyperactivity Disorder ◽

Asperger Disorder ◽

Oppositional Defiant ◽

Assessment And Treatment ◽

Clinically Significant

Disorders of development include a range of problems first evidenced in childhood. Although most disorders have their origins in childhood, a few fully express themselves before early adulthood. This chapter describes the nature, assessment, and treatment of the more common disorders that are revealed in a clinically significant way during a child’s developing years. The disorders of development affect a range of functioning, from single skills deficits to more pervasive problems that negatively impact a child’s ability to function. Included is coverage of several disorders usually diagnosed first in infancy, childhood, or adolescence, including attention-deficit hyperactivity disorder, oppositional defiant disorder, conduct disorder, learning disorders, communication and related disorders, pervasive developmental disorders (including autistic disorder and Asperger disorder), and intellectual disabilities. Recommendations for future research on the potential for advancing knowledge regarding spectrums within some of these disorders, as well as recommendations for treatment, are outlined.

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The conserved lysine of the catalytic domain of protein kinases is actively involved in the phosphotransfer reaction and not required for anchoring ATP.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.90.2.442 ◽

1993 ◽

Vol 90 (2) ◽

pp. 442-446 ◽

Cited By ~ 127

Author(s):

A. C. Carrera ◽

K. Alexandrov ◽

T. M. Roberts

Keyword(s):

Protein Kinases ◽

Catalytic Domain

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Open Reading Frame sso2387 from the Archaeon Sulfolobus solfataricus Encodes a Polypeptide with Protein-Serine Kinase Activity

Journal of Bacteriology ◽

10.1128/jb.185.11.3436-3445.2003 ◽

2003 ◽

Vol 185 (11) ◽

pp. 3436-3445 ◽

Cited By ~ 25

Author(s):

Brian H. Lower ◽

Peter J. Kennelly

Keyword(s):

Protein Kinases ◽

Catalytic Domain ◽

Sulfolobus Solfataricus ◽

Open Reading Frame ◽

Serine Kinase ◽

Eukaryotic Protein Kinase ◽

Reading Frame ◽

Eukaryotic Protein ◽

High Concentrations ◽

Eukaryotic Protein Kinases

ABSTRACT The predicted polypeptide product of open reading frame sso2387 from the archaeon Sulfolobus solfataricus, SsoPK2, displayed several of the sequence features conserved among the members of the “eukaryotic” protein kinase superfamily. sso2387 was cloned, and its polypeptide product was expressed in Escherichia coli. The recombinant protein, rSsoPK2, was recovered in insoluble aggregates that could be dispersed by using high concentrations (5 M) of urea. The solubilized polypeptide displayed the ability to phosphorylate itself as well as several exogenous proteins, including mixed histones, casein, bovine serum albumin, and reduced carboxyamidomethylated and maleylated lysozyme, on serine residues. The source of this activity resided in that portion of the protein displaying homology to the catalytic domain of eukaryotic protein kinases. By use of mass spectrometry, the sites of autophosphorylation were found to be located in two areas, one immediately N terminal to the region corresponding to subdomain I of eukaryotic protein kinases, and the second N terminal to the presumed activation loop located between subdomains VII and VIII. Autophosphorylation of rSsoPK2 could be uncoupled from the phosphorylation of exogenous proteins by manipulation of the temperature or mutagenic alteration of the enzyme. Autophosphorylation was detected only at temperatures ≥60°C, whereas phosphorylation of exogenous proteins was detectable at 37°C. Similarly, replacement of one of the potential sites of autophosphorylation, Ser548, with alanine blocked autophosphorylation but not phosphorylation of an exogenous protein, casein.

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Differential protein expression of mitogen-activated protein kinases in erythrocytes and liver of lamprey Lampetra fluviatilis on the course of prespawning starvation

Comparative Biochemistry and Physiology Part A Molecular & Integrative Physiology ◽

10.1016/j.cbpa.2021.111108 ◽

2021 ◽

pp. 111108

Author(s):

Irina A. Khvorova ◽

Olga V. Nadei ◽

Natalia I. Agalakova

Keyword(s):

Protein Expression ◽

Protein Kinases ◽

Differential Protein Expression ◽

Lampetra Fluviatilis ◽

Mitogen Activated Protein Kinases ◽

Differential Protein ◽

Mitogen Activated Protein

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Human cytomegalovirus in the pancreas of patients with type 2 diabetes: Is there a relation to clinical features, mRNA and protein expression of insulin, somatostatin, and MHC class II?

Virchows Archiv A Pathological Anatomy and Histopathology ◽

10.1007/bf01606908 ◽

1992 ◽

Vol 421 (5) ◽

pp. 371-378 ◽

Cited By ~ 4

Author(s):

M. Löhr ◽

B. Bergstrome ◽

R. Maekawa ◽

M. B. A. Oldstone ◽

G. Klöppel

Keyword(s):

Type 2 Diabetes ◽

Protein Expression ◽

Mhc Class Ii ◽

Clinical Features ◽

Human Cytomegalovirus ◽

Class Ii ◽

Mrna And Protein Expression

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Regulation of Bcl-2 Protein Expression in Human Neuroblastoma SH-SY5Y Cells: Positive and Negative Effects of Protein Kinases C and A, Respectively

Journal of Neurochemistry ◽

10.1046/j.1471-4159.1996.67010131.x ◽

2002 ◽

Vol 67 (1) ◽

pp. 131-137 ◽

Cited By ~ 50

Author(s):

Yasuhiro Itano ◽

Akihiro Ito ◽

Takashi Uehara ◽

Yasuyuki Nomura

Keyword(s):

Protein Expression ◽

Protein Kinases ◽

Negative Effects ◽

Human Neuroblastoma

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Sequence, expression and localization of calmodulin-domain protein kinases inEimeria tenellaandEimeria maxima

Parasitology ◽

10.1017/s0031182000081506 ◽

1996 ◽

Vol 113 (5) ◽

pp. 439-448 ◽

Cited By ~ 21

Author(s):

P. P. J. Dunn ◽

J. M. Bumstead ◽

F. M. Tomley

Keyword(s):

Host Cell ◽

Protein Kinases ◽

Catalytic Domain ◽

Sequence Data ◽

Host Cells ◽

Cdna Clones ◽

Host Cell Membrane ◽

Amino Terminal ◽

Domain Protein

SUMMARYWe have isolated and sequenced cDNA clones fromEimeria tenellaandEimeria maximawhich encode proteins that share homology with a recently described family of calmodulin-domain protein kinases. The primary sequence data show that each of the protein kinases can be divided into 2 main functional domains – an amino-terminal catalytic domain typical of serine/threonine protein kinases and a carboxy-terminal domain homologous to calmodulin, which is capable of binding calcium ions at 4 ‘EF-hand’ motifs. Expression of theE. tenellacalmodulin-domain protein kinase (EtCDPK) increased towards the end of oocyst sporulation, as judged by Northern and Western blotting, and indirect immunofluorescent antibody labelling showed that within a few minutes of adding sporozoites to target host cells inin vitroculture EtCDPK was found to be specifically associated with a filament-like structure that converges at the apical end of the parasite. Once the parasite entered the host cell EtCDPK appeared to be left on the host cell membrane at the point of entry, indicating a brief yet specific role for this molecule in the invasion of host cells byE. tenella.

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