Relevant bibliographies by topics / Autosomal Recesive Primary Microcephaly (MCPH)

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters
  4. Conference papers

Academic literature on the topic 'Autosomal Recesive Primary Microcephaly (MCPH)'

Author: Grafiati
Published: 4 June 2021
Last updated: 6 September 2023

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Journal articles on the topic "Autosomal Recesive Primary Microcephaly (MCPH)"

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Barbelanne, Marine, and William Y. Tsang. "Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly." BioMed Research International 2014 (2014): 1–13. http://dx.doi.org/10.1155/2014/547986.

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Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this review, we discuss the key proteins mutated in MCPH. To date, MCPH-causing mutations have been identified in twelve different genes, many of which encode proteins that are involved in cell cycle regulation o
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Morris-Rosendahl, Deborah, Angela Kaindl, and Sami Zaqout. "Autosomal Recessive Primary Microcephaly (MCPH): An Update." Neuropediatrics 48, no. 03 (2017): 135–42. http://dx.doi.org/10.1055/s-0037-1601448.

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AbstractAutosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians.
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Papoulidis, Ioannis, Makarios Eleftheriades, Emmanouil Manolakos, et al. "Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature." Children 9, no. 12 (2022): 1879. http://dx.doi.org/10.3390/children9121879.

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Background: MCPH1 is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus). The microcephalin protein is made up of three BCRT domains and conserved tandem repeats of interacting phospho-peptides. There is a strong connection between mutations of the MCPH1 gene and reduced brain growth. Specifically, individuals with such mutations have underdeveloped brains, varying levels of mental retardation, delayed speech and poor language skills. Methods: In this article, a family with two affected fetuses p
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Mundhofir, Farmaditya EP, Rahajeng N. Tunjungputri, Willy M. Nillesen, et al. "Molecular analyses in Indonesian individuals with intellectual disability and microcephaly." Paediatrica Indonesiana 53, no. 2 (2013): 83. http://dx.doi.org/10.14238/pi53.2.2013.83-8.

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Background Intellectual disability (ID) often coincides with anabnormal head circumference (HC). Since the HC is a reflectionof brain size, abnormalities in HC may be a sign of a brain anomaly.Although microcephaly is often secondary to ID, hereditary(autosomal recessive) forms of primary microcephaly (MCPH)exist that result in ID.Objective To investigate mutations in MCPH genes in patientswith ID and microcephaly.Methods From a population of 527 Indonesian individuals withID, 48 patients with microcephaly (9.1 %) were selected. Thesepatients were previously found to be normal upon conventiona
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Zhou, Xiaokun, Yiqiang Zhi, Jurui Yu, and Dan Xu. "The Yin and Yang of Autosomal Recessive Primary Microcephaly Genes: Insights from Neurogenesis and Carcinogenesis." International Journal of Molecular Sciences 21, no. 5 (2020): 1691. http://dx.doi.org/10.3390/ijms21051691.

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The stem cells of neurogenesis and carcinogenesis share many properties, including proliferative rate, an extensive replicative potential, the potential to generate different cell types of a given tissue, and an ability to independently migrate to a damaged area. This is also evidenced by the common molecular principles regulating key processes associated with cell division and apoptosis. Autosomal recessive primary microcephaly (MCPH) is a neurogenic mitotic disorder that is characterized by decreased brain size and mental retardation. Until now, a total of 25 genes have been identified that
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Martín-Rivada, Álvaro, Jesús Pozo-Román, María Güemes, Nelmar Valentina Ortiz-Cabrera, Luis A. Pérez-Jurado, and Jesús Argente. "Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings." Hormone Research in Paediatrics 93, no. 9-10 (2020): 567–72. http://dx.doi.org/10.1159/000514280.

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<b><i>Introduction:</i></b> Primary autosomal recessive microcephalies (MCPHs) are characterized by primary dwarfism with MCPH and may present delayed psychomotor development and visual impairment. Biallelic loss of function variants in the <i>PLK4</i> gene<i>,</i> which encodes the polo-like kinase 4 protein involved in centriole biogenesis, has been recently identified in several patients with MCPH and various ethnic backgrounds. <b><i>Case Presentation:</i></b> Here, we describe 2 siblings of different sex from Equatori
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Chang, Hao-Yen, Chia-Yi Lee, Chih-Hao Lu, et al. "Microcephaly family protein MCPH1 stabilizes RAD51 filaments." Nucleic Acids Research 48, no. 16 (2020): 9135–46. http://dx.doi.org/10.1093/nar/gkaa636.

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Abstract Microcephalin 1 (MCPH1) was identified from genetic mutations in patients with primary autosomal recessive microcephaly. In response to DNA double-strand breaks (DSBs), MCPH1 forms damage-induced foci and recruits BRCA2–RAD51 complex, a key component of the DSB repair machinery for homologous recombination (HR), to damage sites. Accordingly, the efficiency of HR is significantly attenuated upon depletion of MCPH1. The biochemical characteristics of MCPH1 and its functional interaction with the HR machinery had remained unclear due to lack of highly purified MCPH1 recombinant protein f
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Wang, Yaru, Wen Zong, Wenli Sun, Chengyan Chen, Zhao-Qi Wang, and Tangliang Li. "The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice." Cells 11, no. 17 (2022): 2715. http://dx.doi.org/10.3390/cells11172715.

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MCPH1 is the first gene identified to be responsible for the human autosomal recessive disorder primary microcephaly (MCPH). Mutations in the N-terminal and central domains of MCPH1 are strongly associated with microcephaly in human patients. A recent study showed that the central domain of MCPH1, which is mainly encoded by exon 8, interacts with E3 ligase βTrCP2 and regulates the G2/M transition of the cell cycle. In order to investigate the biological functions of MCPH1’s central domain, we constructed a mouse model that lacked the central domain of MCPH1 by deleting its exon 8 (designated a
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Mahmood, Saqib, Wasim Ahmad, and Muhammad J. Hassan. "Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum." Orphanet Journal of Rare Diseases 6, no. 1 (2011): 39. http://dx.doi.org/10.1186/1750-1172-6-39.

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Nasser, Hala, Liza Vera, Monique Elmaleh-Bergès, et al. "CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects." Journal of Medical Genetics 57, no. 6 (2020): 389–99. http://dx.doi.org/10.1136/jmedgenet-2019-106474.

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BackgroundPrimary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distinguish between different MCPH forms at the clinical level.Methods7 patients with newly identified mutations in CDK5RAP2 (MCPH3) were investigated by performing prospective, extensive and systematic clinical, MRI, psychomotor, neurosensory and cognitive examinations under similar conditions.ResultsAll patient
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Dissertations / Theses on the topic "Autosomal Recesive Primary Microcephaly (MCPH)"

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Jahns, (geb Issa) Lina [Verfasser]. "The role of CDK5RAP2 in autosomal recessive primary microcephaly (MCPH) / Lina Jahns (geb. Issa)." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2014. http://d-nb.info/1062949196/34.

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Ghani-Kakhki, Mahdi [Verfasser]. "Molecular genetic and cytogenetic analyses of autosomal recessive primary microcephaly (MCPH) : mouse model, new locus and novel mutations / Mahdi Ghani-Kakhki." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2013. http://d-nb.info/1031099646/34.

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Singhmar, Pooja. "Functional Analysis Of Primary Microcephaly Gene Product ASPM." Thesis, 2011. http://etd.iisc.ernet.in/handle/2005/2060.

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Autosomal recessive primary microcephaly (MCPH) is defined by congenital microcephaly and associated mental retardation with head circumference of the affected individual at least 3 standard deviations below age- and sex-means. It is a disorder of abnormal fetal brain growth which is a consequence of impaired neurogenesis. It is genetically heterogeneous with seven known loci and genes for all the seven loci have been identified: MCPH-1-MCPH1, MCPH2-WDR62, MCPH3-CDK5RAP2, MCPH4-CEP152, MCPH5-ASPM, MCPH6-CENPJ, and MCPH7-STIL. All the seven MCPH proteins localize at the centrosome. Apart from M
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Thejaswini, V. "Primary Microcephaly Gene MCPH1 Shows Signatures of Tumor Suppressors and is Regulated by miR-27a in Oral Squamous Cell Carcinoma." Thesis, 2013. http://etd.iisc.ernet.in/2005/3323.

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Autosomal recessive primary microcephaly (MCPH) is a congenital neurodevelopmental disorder characterised by a reduced occipital-frontal head circumference (OFC) of less than -3 SDs below the population mean for age and sex. It is a genetically heterogeneous disorder caused by mutations in one of the following 10 MCPH genes: MCPH1 (microcephalin 1), WDR62 (WD repeat domain 62), CDK5RAP2 (cyclin-dependent kinase 5 regulatory associated protein 2), CASC5 (cancer susceptibility candidate 5), CEP152 (centrosomal protein 152 kDa), ASPM (asp [abnormal spindle] homolog, microcephaly associated [Droso
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Book chapters on the topic "Autosomal Recesive Primary Microcephaly (MCPH)"

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Clark, Robin D., and Cynthia J. Curry. "Microcephaly." In Genetic Consultations in the Newborn, edited by Robin D. Clark and Cynthia J. Curry. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199990993.003.0015.

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This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of isolated and syndromic microcephaly. The differential diagnosis of microcephaly includes multiple teratogenic agents such as alcohol, hyperthermia, maternal PKU, and new and old congenital infections as well as specific chromosome aneuploidies such as 4p- and 5p- where microcephaly is almost universally seen. Metabolic disorders include congenital disorders of glycosylation and pyruvate dehydrogenase deficiency. Multiple autosomal recessive primary microcephaly syndromes (MCPH) are being delineated. Important syndromes with microcephaly include Cornelia de Lange and Smith Lemli Opitz syndromes but many other complex genetic syndromes include microcephaly. A clinical case presentation features an infant with autosomal recessive primary microcephaly with an unknown genetic cause.
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Conference papers on the topic "Autosomal Recesive Primary Microcephaly (MCPH)"

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Ferih, Khaled Ramadan, Ahmed Adel Elsabagh, Sami Ismail Zaqout, and Angelika Krajewski. "Proteome changes in autosomal recessive primary microcephaly." In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2021. http://dx.doi.org/10.29117/quarfe.2021.0147.

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Autosomal recessive primary microcephaly (MCPH) consists of a group of disorders characterized by microcephaly and intellectual disability. This study is essential to complement previous findings of MCPH as it helps clarify the role of different genes and proteins involved in the underlying pathophysiology of MCPH. To date, 27 different mutations have been identified. This study defines a number of changes in gene expression occurring in MCPH. This helps deepen our understanding of the effect of MCPH mutations on gene expression. This study also shows the functions of proteins that increase, a
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Zaqout, Sami, Lena-Luise Becker, Ayman Mustafa, Nadine Krame, Ulf Strauss, and Angela M. Kaindl. "Role of Cdk5rap2 in neocortical inhibition and excitation balance." In Qatar University Annual Research Forum & Exhibition. Qatar University Press, 2020. http://dx.doi.org/10.29117/quarfe.2020.0117.

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Autosomal recessive primary microcephaly type 3 (MCPH3) is characterized by congenital microcephaly and intellectual disability. Further features include hyperactivity and seizures. The disease is caused by biallelic mutations in the Cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2. In the mouse, Cdk5rap2 mutations similarly result in reduced brain size and a strikingly thin neocortex already at early stages of neurogenesis that persists through adulthood. The microcephaly phenotype in MCPH arises from a neural stem cell proliferation defect. Here, we report a no
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