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MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1

Known as: PCC SYNDROME, PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION, PREMATURE CHROMOSOME CONDENSATION SYNDROME 
National Institutes of Health

Related topics

Related topics

4 relations
Autosomal recessive inheritanceMCPH1 geneMCPH1 protein, human

Broader (1)

Microcephaly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1
Autosomal recessive intellectual disability (ARID) is vastly heterogeneous. Truncating mutations of TRAPPC9 were reported in 8… 
2017
2017
Examining the relationship between MCPH1 with H2AX in esophageal cancer cells ECA109
Objective: To discover the role of MCPH1 in the DNA double-strand damage induced by ionizing radiation and the relationship with… 
2014
2014
Phosphorylation of the BRCA1 C Terminus (BRCT) Repeat Inhibitor of hTERT (BRIT1) Protein Coordinates TopBP1 Protein Recruitment and Amplifies Ataxia Telangiectasia-mutated and Rad3-related (ATR…
Background: ATR signaling depends on TopBP1 recruitment to replication stress sites. Results: Interaction between BRIT1 and… 
2014
2014
Primary microcephaly gene MCPH1 shows a novel molecular biomarker of human renal carcinoma and is regulated by miR-27a.
Microcephalin 1 (MCPH1) gene, initially identified as an hTERT repressor, result in two autosomal recessive disorders: primary… 
2014
2014
Association of microcephalin 1, syntrophin‐beta 1, and other genes with automatic thoughts in the Japanese population
Automatic thoughts may be risk factors for depression and anxiety, and should be detected early. However, the genetic basis of… 
2013
2013
Frequent Alterations of MCPH1 and ATM are Associated with Primary Breast Carcinoma: Clinical and Prognostic Implications
BackgroundMCPH1 is a proximal regulator of DNA damage response pathway that is involved in recruitment of phosphorylated ATM to… 
2013
2013
MCPH1 Protein Expression in Normal and Neoplastic Lung Tissues.
Lung cancer is the most common cause of cancer-related death in the world. The main types are small-cell lung carcinoma (SCLC… 
2013
2013
Correction: Mcph1-Deficient Mice Reveal a Role for MCPH1 in Otitis Media
Figures 3 and 4 were incorrectly switched. The locations of the legends for Figures 3 and 4 are correct. 
2007
2007
MCPH1 is associated with risk for illness and cognitive ability in patients with schizophrenia
1999
1999
Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease
We report the prenatal diagnosis, at 18 weeks' gestational age of a del(8)(p23.1→pter) in a fetus with an atrio‐ventricular canal… 
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