ORCID Profile
0000-0001-6437-4931
Current Organisations
Colorado State University
,
deCODE Genetics (Iceland)
,
ETH-Bereich Hochschulen
,
Slovak Technical University
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Publisher: Elsevier BV
Date: 04-2012
Publisher: American Meteorological Society
Date: 04-2018
Abstract: This study contributes to the understanding of the relationship between air temperature and convection by analyzing the characteristics of rainfall at the storm and convective rain cell scales. High spatial–temporal resolution (1 km, 5 min) estimates from a uniquely long weather radar record (24 years) were coupled with near-surface air temperature over Mediterranean and semiarid regions in the eastern Mediterranean. In the examined temperature range (5°–25°C), the peak intensity of in idual convective rain cells was found to increase with temperature, but at a lower rate than the 7%°C−1 scaling expected from the Clausius–Clapeyron relation, while the area of the in idual convective rain cells slightly decreases or, at most, remains unchanged. At the storm scale, the areal convective rainfall was found to increase with warmer temperatures, whereas the areal nonconvective rainfall and the stormwide area decrease. This suggests an enhanced moisture convergence from the stormwide extent toward the convective rain cells. Results indicate a reduction in the total rainfall amounts and an increased heterogeneity of the spatial structure of the storm rainfall for temperatures increasing up to 25°C. Thermodynamic conditions, analyzed using convective available potential energy, were determined to be similar between Mediterranean and semiarid regions. Limitations in the atmospheric moisture availability when shifting from Mediterranean to semiarid climates were detected and explain the suppression of the intensity of the convective rain cells when moving toward drier regions. The relationships obtained in this study are relevant for nearby regions characterized by Mediterranean and semiarid climates.
Publisher: Springer Science and Business Media LLC
Date: 04-07-2023
DOI: 10.1038/S42003-023-04869-0
Abstract: Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analysis ( n ~ 43,800) of SK-BMD, identifying 59 loci, collectively explaining 12.5% of the trait variance. Association signals cluster within gene-sets involved in skeletal development and osteoporosis. Among the four novel loci ( ZIC1 , PRKAR1A , AZIN1/ATP6V1C1 , GLRX3 ), there are factors implicated in intramembranous ossification and as we show, inherent to craniosynostosis processes. Functional follow-up in zebrafish confirms the importance of ZIC1 on cranial suture patterning. Likewise, we observe abnormal cranial bone initiation that culminates in ectopic sutures and reduced BMD in mosaic atp6v1c1 knockouts. Mosaic prkar1a knockouts present asymmetric bone growth and, conversely, elevated BMD. In light of this evidence linking SK-BMD loci to craniofacial abnormalities, our study provides new insight into the pathophysiology, diagnosis and treatment of skeletal diseases.
Publisher: Elsevier BV
Date: 04-1995
DOI: 10.1016/S0002-9149(99)80416-0
Abstract: Amyl nitrite may be used to provoke latent gradients in patients with hypertrophic cardiomyopathy (HC) without significant resting outflow tract gradients, but afterload reduction may not be comparable to a more physiologic stressor such as symptom-limited exercise testing. This study compared the ability of amyl nitrite and exercise testing to provoke outflow tract gradients in 57 patients (40 men and 17 women, mean age +/- SD 49 +/- 16 years) with HC (septal thickness 19 +/- 5 mm, average resting gradient 13 +/- 10 mm Hg) who underwent echocardiography at rest, after amyl nitrite inhalation, and after maximal exercise. No significant gradient (< 50 mm Hg) was induced after either provocation in 26 patients (46%) in 15 patients (26%), inducibility was achieved after both stressors, in 6 (11%) after exercise only, and in 10 (18%) after amyl only. Patients with amyl-induced gradients differed from those in whom gradients were noninducible on the basis of smaller outflow tract dimensions (p < 0.001), larger resting gradients (p < 0.001), and a greater prevalence of "septal bulge" morphology (p = 0.02). Those with exercise-induced gradients were able to attain a greater workload (p = 0.07), have larger resting gradients (p = 0.02), and also tended to have a septal bulge morphology (p < or = 0.01). Although outflow tract obstruction increased to similar levels after amyl nitrite (49 +/- 39 mm Hg) and symptom-limited exercise (47 +/- 39 mm Hg), gradients induced by exercise and amyl correlated poorly (r = 0.54).(ABSTRACT TRUNCATED AT 250 WORDS)
Publisher: Springer Science and Business Media LLC
Date: 10-05-2023
Publisher: Springer Science and Business Media LLC
Date: 03-2023
Publisher: American Geophysical Union (AGU)
Date: 09-2017
DOI: 10.1002/2017JG003890
Publisher: Cold Spring Harbor Laboratory
Date: 02-11-2021
DOI: 10.1101/2021.11.01.21265592
Abstract: Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of genes important to bone biology in general, and particularly for identifying components unique to intramembranous ossification, which cannot be captured at other skeletal sites. We assessed genetic determinants of SK-BMD in 43,800 in iduals, identifying 59 genome-wide significant loci (4 novel), explaining 12.5% of its variance. Pathway and enrichment analyses of the association signals resulted in clustering within gene-sets involved in regulating the development of the skeleton overexpressed in the musculoskeletal system and enriched in enhancer and transcribed regions in osteoblasts. From the four novel loci (mapping to ZIC1, PRKAR1A, ATP6V1C1, GLRX3 ), two ( ZIC1 and PRKAR1A ) have previously been related to craniofacial developmental defects. Functional validation of skull development in zebrafish revealed abnormal cranial bone initiation that culminated in ectopic sutures and reduced BMD in mutated zic1 and atp6v1c1 fish and asymmetric bone growth and elevated BMD in mutated prkar1a fish. We confirmed a role of ZIC1 loss-of-function in suture patterning and discovered ATP6V1C1 gene associated with suture development. In light of the evidence presented suggesting that SK-BMD is genetically related to craniofacial abnormalities, our study opens new avenues to the understanding of the pathophysiology of craniofacial defects and towards the effective pharmacological treatment of bone diseases.
No related grants have been discovered for Peter Molnar.