Clinical utility gene card for: Pseudohypoparathyroidism

Mantovani, Giovanna; Linglart, Agnes; Garin, Intza; Silve, Caroline; Elli, Francesca M; de Nanclares, Guiomar Perez
June 2013
European Journal of Human Genetics;Jun2013, Vol. 21 Issue 6, p1
Academic Journal
The article offers information on the genetic aspect of pseudohypoparathyroidism (PHP). It mentions that PHP is caused by haploinsufficiency due to maternally-inherited heterozygous inactivating mutations of GNAS gene. It adds that special care should be practiced in the interpretation of the disease variants. Moreover, it cites important things on how to validate the genetic aspect of the disease.


Related Articles

  • Radiation-induced genomic instability and its implications for radiation carcinogenesis. Huang, Lei; Snyder, Andrew R; Morgan, William F // Oncogene;9/1/2003 Review, Vol. 22 Issue 37, p5848 

    Radiation-induced genomic instability is characterized by an increased rate of genetic alterations including cytogenetic rearrangements, mutations, gene amplifications, transformation and cell death in the progeny of irradiated cells multiple generations after the initial insult. Chromosomal...

  • Perimenstrual Asthma: A High-Risk Phenotype.  // OB/GYN Clinical Alert;Jul2013 Clinical Briefs in Primary Care, p14 

    The article focuses on a study regarding the characteristics of premenstrual asthma and its association to asthma control and severity, which was conducted by C. K. Rao and colleagues and previously published in the "Chest Journal" in 2013.

  • Outcomes after thoracoscopic versus open lobectomy. Sartipy, Ulrik // Thorax;Jul2013, Vol. 68 Issue 7, p618 

    The article discusses a study regarding the detection of exacerbations in asthma based on electronic diary data and the identification of phenotypic variables associated with a higher risk of exacerbation. It informs that 169 patients with asthma were taken and information about their lung...

  • American Thoracic Society Intl Conference: Risk factors for an exacerbation-prone asthma phenotype.  // Biomedical Market Newsletter;5/25/2012, Vol. 21, p1 

    The article offers information on the study which reveals that exacerbation prone asthma phenotype is associated with several specific risk factors.

  • Functional differences among BRCA1 missense mutations in the control of centrosome duplication. Kais, Z; Chiba, N; Ishioka, C; Parvin, J D // Oncogene;2/9/2012, Vol. 31 Issue 6, p799 

    We analyzed the effects of 14 different missense mutations in the RING domain of BRCA1 on the function of the protein in the control of centrosome number in tissue culture cells. Whereas 2 of the 14 BRCA1 variant proteins were neutral in the centrosome duplication assay, missense mutations of...

  • Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: Challenges in hemoglobin analysis and clinical diagnosis. Tan, Jin Ai Mary Anne; Kok, Juan Loong; Tan, Kim Lian; Wee, Yong Chui; George, Elizabeth // Genes & Genetic Systems;2009, Vol. 84 Issue 1, p67 

    Co-inheritance of α-thalassemia with homozygosity or compound heterozygosity for Β-thalassemia may ameliorate Β-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of α-thalassemia alleles (-α/αα--/αα, --/-α). The...

  • MLPA Subtelomere Analysis in Tunisian Mentally Retarded Patients. Hila, Lamia; Tébourbi, Hédia; Abaied, Leila; Rejeb, Imène; Ben Jemaa, Lamia; Chaabouni, Habiba // Biochemical Genetics;Oct2009, Vol. 47 Issue 9/10, p727 

    Subtelomeric rearrangements significantly contribute to idiopathic mental retardation and result in several mental retardation syndromes; however, most subtelomeric defects lack a characteristic phenotype. Thirty patients with unexplained mental retardation, a normal R banded karyotype at the...

  • Neuroblastomas with Discordant Genotype-Phenotype Relationships: Report of Four Cases with MYCN Amplification and Favorable Histology. NAKAGAWA, ATSUKO; MATSUOKA, KENTARO; OKITA, HAJIME; IWAFUCHI, HIDETO; HORI, HISANARI; KUMAGAI, MASAAKI // Pediatric & Developmental Pathology;Mar/Apr2011, Vol. 14 Issue 2, p87 

    MYCN amplification prevents cellular differentiation and promotes mitotic and karyorrhectic activities in neuroblastomas. Hence, MYCN-amplified tumors typically show an appearance of neuroblastoma of either an undifferentiated or a poorly differentiated subtype with a high mitosis-karyorrhexis...

  • Genome rearrangements of Streptomyces albus J1074 lead to the carotenoid gene cluster activation. Myronovskyi, Maksym; Tokovenko, Bogdan; Brötz, Elke; Rückert, Christian; Kalinowski, Jörn; Luzhetskyy, Andriy // Applied Microbiology & Biotechnology;Jan2014, Vol. 98 Issue 2, p795 

    Streptomyces albus J1074 is a derivative of the S. albus G1 strain defective in SalG1 restriction-modification system. Genome sequencing of S. albus J1074 revealed that the size of its chromosome is 6.8 Mb with unusually short terminal arms of only 0.3 and 0.4 Mb. Here we present our attempts to...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics