MMG PUBLICATIONS

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Results: 3208  publications found.

Albarel, F.  et al. 2022

Preoperative Medical Treatment for Patients With Acromegaly: Yes or No?

Transsphenoidal surgery is the first-line treatment for acromegaly. However, several factors can modify surgical remission rates, such as the initial hormone levels, the size and invasiveness of the...
J Endocr Soc - issue: 9 - volume: 6 - pages: bvac114.


Bando, H.  et al. 2022

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable...
Hum Mol Genet - issue: - volume: - pages: ddac192.


Cuny, T.  et al. 2022

The Challenging Management of Craniopharyngiomas in Adults: Time for a Reappraisal?

Craniopharyngiomas (CPs) are rare tumors of the skull base, developing near the pituitary gland and hypothalamus and responsible for severe hormonal deficiencies and an overall increase in mortality...
Cancers (Basel) - issue: 15 - volume: 14 - pages: .


Salgues, B.  et al. 2022

Somatostatin Receptor Theranostics for Refractory Meningiomas.

Somatostatin receptor (SSTR)-targeted peptide receptor radionuclide therapy (PRRT) represents a promising approach for treatment-refractory meningiomas progressing after surgery and radiotherapy. The...
Curr Oncol - issue: 8 - volume: 29 - pages: 5550-5565.


Castinetti, F.  et al. 2022

Medical management of Cushing's disease: When and how?

Transsphenoidal surgery is the first-line treatment of Cushing's disease. However, medical treatment can be given in a high proportion of patients with this rare condition. This is especially the...
J Neuroendocrinol - issue: 8 - volume: 34 - pages: e13120.


de la Fouchardiere, A.  et al. 2022

Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics.

Pigmented epithelioid melanocytoma is a rare cutaneous melanocytic proliferation considered high-grade melanocytoma in the 2018 WHO Classification of Skin Tumors. Little has been reported about the...
Am J Surg Pathol - issue: 8 - volume: 46 - pages: 1106-1115.


Ben Aim, L.  et al. 2022

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

BACKGROUND: SDHB is one of the major genes predisposing to paraganglioma/pheochromocytoma (PPGL). Identifying pathogenic SDHB variants in patients with PPGL is essential to the management of patients...
J Med Genet - issue: 8 - volume: 59 - pages: 785-792.


Raverot, V.  et al. 2022

Prolactin immunoassay: does the high-dose hook effect still exist?

PURPOSE: Measurement of prolactin in clinical laboratories is an important component in the management of patients with pituitary adenoma. Prolactin measurement is known to be sensitive to the...
Pituitary - issue: 4 - volume: 25 - pages: 653-657.


Vecten, M.  et al. 2022

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more complex and responsible for long delays. It...
Int J Mol Sci - issue: 15 - volume: 23 - pages: 8506.


Abaji, M.  et al. 2022

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to...
Genes (Basel) - issue: 7 - volume: 13 - pages: 1277.


Cuny, T.  et al. 2022

Reciprocal Interactions between Fibroblast and Pancreatic Neuroendocrine Tumor Cells: Putative Impact of the Tumor Microenvironment.

INTRODUCTION: Pancreatic neuroendocrine neoplasms (PNENs) present with a fibrotic stroma that constitutes the tumor microenvironment (TME). The role played by stromal fibroblasts in the growth of...
Cancers (Basel) - issue: 14 - volume: 14 - pages: .


Potorac, I.  et al. 2022

Pituitary MRI Features in Acromegaly Resulting From Ectopic GHRH Secretion From a Neuroendocrine Tumor: Analysis of 30 Cases.

CONTEXT: Ectopic acromegaly is a consequence of rare neuroendocrine tumors (NETs) that secrete GHRH. This abnormal GHRH secretion drives GH and IGF-1 excess, with a clinical presentation similar to...
J Clin Endocrinol Metab - issue: 8 - volume: 107 - pages: e3313-e3320.


Lin, X.  et al. 2022

Mesp1 controls the chromatin and enhancer landscapes essential for spatiotemporal patterning of early cardiovascular progenitors.

The mammalian heart arises from various populations of Mesp1-expressing cardiovascular progenitors (CPs) that are specified during the early stages of gastrulation. Mesp1 is a transcription factor...
Nat Cell Biol - issue: - volume: - pages: Epub ahead of print.


Laville, D.  et al. 2022

A subset of lung adenofibromas are morphological variants of solitary fibrous tumour.

Histopathology - issue: 1 - volume: 81 - pages: 133-137.


Kraoua, L.  et al. 2022

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Background: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to...
Mol Genet Genomic Med - issue: 7 - volume: 10 - pages: e1954.


Baptista, A.  et al. 2022

Universal multilayer network exploration by random walk with restart

The amount and variety of data have been increasing drastically for several years. These data are often represented as networks and explored with approaches arising from network theory. Recent years...
Communications Physics - issue: 1 - volume: 5 - pages: 170.


Brahmi, M.  et al. 2022

CIC-DUX4 sarcomas.

PURPOSE OF REVIEW: CIC-DUX4 sarcoma (CDS) is a high-grade undifferentiated round cells sarcoma that belongs to the undifferentiated round cell sarcomas family. It represents less than one percent of...
Curr Opin Oncol - issue: 4 - volume: 34 - pages: 342-347.


Bataille, S.  et al. 2022

Mechanisms of myostatin and activin A accumulation in chronic kidney disease

BACKGROUND: Myostatin and activin A induce muscle wasting by activating the ubiquitin proteasome system and inhibiting the Akt/mammalian target of rapamycin pathway. In chronic kidney disease (CKD),...
Nephrol Dial Transplant - issue: 7 - volume: 37 - pages: 1249-1260.


Cerino, M.  et al. 2022

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We...
Genes (Basel) - issue: 6 - volume: 13 - pages: 1076.


Castinetti, F.  et al. 2022

Impact of Cushing's syndrome on fertility and pregnancy.

Cushing's syndrome is defined by an endogenous or exogenous hypercortisolism. Increased cortisol, as well as increased androgens will have a negative impact on the pulsatile secretion of GnRH, thus...
Ann Endocrinol (Paris) - issue: 3 - volume: 83 - pages: 188-190.