Match!
Regina Matsunaga Martin
University of São Paulo
EndocrinologyMutationDiabetes mellitusMedicineBiology
54Publications
11H-index
740Citations
What is this?
Publications 59
Newest
#1Adriana M. Fernandes (USP: University of São Paulo)
#2Manuela Rocha-Braz (USP: University of São Paulo)H-Index: 1
Last. Bruno Ferraz-de-Souza (USP: University of São Paulo)H-Index: 12
view all 10 authors...
We have sought the molecular diagnosis of OI in 38 Brazilian cases through targeted sequencing of 15 candidate genes. While 71% had type 1 collagen-related OI, defects in FKBP10, PLOD2 and SERPINF1, and a potential digenic P3H1/WNT1 interaction were prominent causes of OI in this underrepresented population. Defects in type 1 collagen reportedly account for 85–90% of osteogenesis imperfecta (OI) cases, but most available molecular data has derived from Sanger sequencing-based approaches in devel...
Source
#1Guido de Paula Colares Neto (USP: University of São Paulo)
#2Fernando Ide Yamauchi (USP: University of São Paulo)H-Index: 3
Last. Regina Matsunaga Martin (USP: University of São Paulo)H-Index: 11
view all 7 authors...
Source
#1Edoarda V. A. Albuquerque (USP: University of São Paulo)H-Index: 2
#2Mariana F. A. Funari (USP: University of São Paulo)H-Index: 10
Last. Alexander A. L. Jorge (USP: University of São Paulo)H-Index: 26
view all 15 authors...
Source
#1L. L. Iervolino (USP: University of São Paulo)
#2Bruno Ferraz-de-Souza (USP: University of São Paulo)H-Index: 12
Last. Tânia A. S. S. Bachega (USP: University of São Paulo)H-Index: 17
view all 7 authors...
The congenital adrenal hyperplasia population seems to have an intrinsic tendency to a high frequency of low bone mass. However in this single-center and long-term evaluated cohort, the simplified corticoid regimen, with exclusive dexamethasone single dose reposition during adulthood, did not represent a risk factor for decrease in bone health. The impact of long-term and supposedly physiological doses of gluco and mineralocorticoid (GC/MC) on bone mineral density (BMD) in congenital adrenal hyp...
Source
Epidermal nevus syndrome has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities, in this case including hypophosphatemic osteomalacia. The present case reports a female patient, 19 years of age, diagnosed with epidermal nevus syndrome and presenting with a central giant cell granuloma on the right side of the jaw, with facial asymmetry on the right side. The oral cavity revealed tooth displacement and bone expansion, and the patient reported pain durin...
Source
#1Guido de Paula Colares Neto (USP: University of São Paulo)
#2Fernando Ide Yamauchi (USP: University of São Paulo)H-Index: 3
Last. Regina Matsunaga Martin (USP: University of São Paulo)H-Index: 11
view all 7 authors...
Source
#1Pedro L. F. CostaH-Index: 1
#2Monica M. FrancaH-Index: 5
Last. Bruno Ferraz-de-SouzaH-Index: 12
view all 8 authors...
The vitamin D receptor (VDR) mediates vitamin D actions beyond bone health. While VDR activation by 1,25-dihydroxyvitamin D (1,25D) leads to robust transcriptional regulation, less is known about VDR actions in the absence of 1,25D. We analyzed the transcriptomic response to 1,25D in fibroblasts bearing a severe homozygous hereditary vitamin D resistant rickets-related p.Arg30* VDR mutation (MUT) and in control fibroblasts (CO). Roughly 4.5% of the transcriptome was regulated by 1,25D in CO fibr...
Source
#1Hiroshi Saito (Harvard University)H-Index: 30
#2Hiroshi Noda (Harvard University)H-Index: 13
Last. Harald Jüppner (Harvard University)H-Index: 76
view all 16 authors...
Context: Five different activating PTH/PTH-related peptide (PTHrP) receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia.Objectives: Assess the natural history of clinical and laboratory findings in 24 patients with JMC and characterize the disease-causing mutant receptors in vitro.Patients and Methods: The H223R mutation occurred in 18 patients. T4...
Source
Last. Bruno Ferraz-de-SouzaH-Index: 12
view all 5 authors...
#1Flávia Sirotheau Corrêa Pontes (UFPA: Federal University of Pará)H-Index: 12
#2Márcio Ajudarte Lopes (State University of Campinas)H-Index: 29
Last. Hélder Antônio Rebelo Pontes (UFPA: Federal University of Pará)H-Index: 13
view all 14 authors...
Objective To describe the oral and maxillofacial manifestations of patients diagnosed with chronic kidney disease–mineral and bone disorders. Study Design Over a 13-year period, clinicopathologic data of patients diagnosed with CKD-MBD who had oral and maxillofacial alterations were retrieved from the files of 4 Brazilian institutions. Data included clinical, radiographic, microscopic, and biochemical findings; treatment employed; and follow-up status. Results Twenty-one cases were identified, w...
3 CitationsSource
123456