L. Matyakhina

发表

Molecular and Functional Analysis of PRKAR 1 A and its Locus ( 17 q 22 – 24 ) in Sporadic Adrenocortical Tumors : 17 q Losses , Somatic Mutations , and Protein Kinase A Expression and Activity 1

J. Bertherat, X. Bertagna, C. Stratakis, 2003 .

Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.

J. Bertherat, X. Bertagna, C. Stratakis, 2003, Cancer research.

A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions

S. Bornstein, C. Stratakis, D. Batista, 2004, Journal of Medical Genetics.

Tau is hyperphosphorylated in the insulin-like growth factor-I null brain.

C. Bondy, Clara M. Cheng, Jie Wang, 2005, Endocrinology.

Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas

C. Stratakis, S. Boikos, R. Gomez, 2005, Genes, chromosomes & cancer.

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

I. Bossis, J. Bertherat, X. Bertagna, 2006, Nature Genetics.

Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect.

C. Stratakis, B. Pasini, J. Carney, 2007, The Journal of clinical endocrinology and metabolism.

Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.

A. Cherry, D. Pineda-Alvarez, S. Aradhya, 2015, American journal of obstetrics and gynecology.

Co-expression of estrogen receptor-alpha and targets of estrogen receptor action in proliferating monkey mammary epithelial cells

É. Mezey, C. Bondy, C. Dimitrakakis, 2006, Breast Cancer Research.

Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.

E. Campo, A. Dutra, G. Assié, 2007, The Journal of clinical endocrinology and metabolism.

A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissues.

C. Stratakis, D. Kusewitt, H. Westphal, 2005, Cancer research.

17q22-24 chromosomal losses and alterations of protein kinase a subunit expression and activity in adrenocorticotropin-independent macronodular adrenal hyperplasia.

C. Stratakis, S. Boikos, I. Bourdeau, 2006, The Journal of clinical endocrinology and metabolism.

Pathology and molecular genetics of the pituitary gland in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex).

I. Bossis, C. Stratakis, J. Carney, 2004, Frontiers of hormone research.

Down-Regulation of Regulatory Subunit Type 1A of Protein Kinase A Leads to Endocrine and Other Tumors

C. Stratakis, F. Weinberg, Y. Cho‐Chung, 2004, Cancer Research.

Chromosome 2 (2p16) abnormalities in Carney complex tumours

J. Carney, S. Pack, E. Pak, 2003, Journal of medical genetics.

Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?

C. Stratakis, D. Kleiner, D. Cassarino, 2004, The Journal of clinical endocrinology and metabolism.

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

S. Bale, D. Pineda-Alvarez, S. Aradhya, 2014, Genetics in Medicine.

Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD

J. Ellison, E. Baudin, P. Rustin, 2008, European Journal of Human Genetics.

An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits.

I. Bossis, C. Stratakis, A. Horvath, 2008, The Journal of clinical endocrinology and metabolism.

Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators

S. Libutti, C. Stratakis, S. Antonini, 2004, Oncogene.

Large Deletions of the PRKAR1A Gene in Carney Complex

E. Remmers, I. Bossis, J. Bertherat, 2008, Clinical Cancer Research.

Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation.

W. Linehan, M. Wei, M. Walther, 2005, The Journal of clinical endocrinology and metabolism.

A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus

I. Bossis, C. Stratakis, D. Batista, 2004, Journal of Medical Genetics.

A Mouse Model for Carney Complex

S. Bornstein, C. Stratakis, F. Weinberg, 2004, Endocrine research.

Molecular cloning, chromosomal localization of human peripheral‐type benzodiazepine receptor‐ and protein kinase A regulatory subunit type 1A (PRKAR1A)‐associated protein PAP7 and studies in PRKAR1A mutant cells and tissues

V. Papadopoulos, C. Stratakis, Jun Liu, 2003, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Regulatory subunit type I‐α of protein kinase A (PRKAR1A): A tumor‐suppressor gene for sporadic thyroid cancer

C. Stratakis, O. Gimm, N. Sarlis, 2002, Genes, chromosomes & cancer.

Protein Kinase A and Chromosomal Stability

C. Stratakis, L. Matyakhina, S. Lenherr, 2002, Annals of the New York Academy of Sciences.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Long-term persistence of nonpathogenic clonal chromosome abnormalities in donor hematopoietic cells after allogeneic stem cell transplantation.

R. Srinivasan, R. Childs, A. Meloni-Ehrig, 2009, Cancer genetics and cytogenetics.

Short communication Long-term persistence of nonpathogenic clonal chromosome abnormalities in donor hematopoietic cells after allogeneic stem cell transplantation

R. Srinivasan, R. Childs, A. Meloni-Ehrig, 2009 .

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Carney complex (CNC)

C. Stratakis, L. Matyakhina, 2011 .

Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ibβ impairs assembly of von Willebrand factor receptor

S. Kaler, N. Luban, M. Riordan, 2004, Thrombosis and Haemostasis.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.