Publications by authors named "J M Gonzalez-Buitrago"

Article Synopsis
  • Heterozygous variants in the Indian hedgehog gene (IHH) are linked to brachydactyly type A1 and mild skeletal anomalies, notably in individuals with short stature, broadening the understanding of skeletal dysplasias.
  • This study analyzed 16 individuals with unknown genetic causes for their conditions, revealing 15 distinct IHH variants, including the first complete deletion of the gene.
  • The clinical findings highlighted variations among patients, with many experiencing mild to moderate short stature and specific hand anomalies, indicating that IHH mutations can cause short stature and skeletal defects, warranting further genetic assessments and family studies for accurate diagnosis.
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Several artisanal cheeses are elaborated in European countries, being commonly curdled with rennets of animal origin. However, in some Spanish regions some cheeses of type "Torta" are elaborated using L. rennets.

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Acute kidney injury (AKI) is a serious syndrome with increasing incidence and health consequences, and high mortality rate among critically ill patients. Acute kidney injury lacks a unified definition, has ambiguous semantic boundaries, and relies on defective diagnosis. This, in part, is due to the absence of biomarkers substratifying AKI patients into pathophysiological categories based on which prognosis can be assigned and clinical treatment differentiated.

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Phaseolus vulgaris is a legume indigenous to America which is currently cultivated in Europe including countries located at the Southeast of this continent, such as Croatia, where several local landraces are cultivated, most of them of Andean origin. In this work we identify at species and symbiovar levels several fast-growing strains able to form effective symbiosis with P. vulgaris in different Croatian soils.

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Urine is a biological fluid that can be collected noninvasively in relatively large quantities which can be used for the search of biomarkers of disease, both diseases of the urological tract and systemic diseases. One of the most important aspects in proteomic studies is sample treatment before further analysis. Methods of preparation of a urine sample depend on the techniques that will be used later for separation and identification of the proteins.

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