Results 91 to 100 of about 8,705 (254)

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

New insights into NPP1 function:Lessons from clinical and animal studies [PDF]

, 2012
The recent elucidation of rare human genetic disorders resulting from mutations in ectonucleotide pyrophosphotase/phosphodiesterase (ENPP1), also known as plasma cell membrane glycoprotein 1 (PC-1), has highlighted the vital importance of this molecule ...
Huesa, C, Mackenzie, N C W, Macrae, V E, Rutsch, F   +3 more
core   +1 more source

The Interconnected World of Dermatology and Ophthalmology

JEADV Clinical Practice, Volume 4, Issue 2, Page 389-399, June 2025.
Medical science, is an integrated field that shares intricate relationship between various organ systems. Similarly, dermatology is inter‐related with various other specialties including ophthalmology. This article depicts the correlation of ophthalmology and dermatology iterating on the genetic diseases, autoimmune diseases, systemic disorders ...
Gyanesh Rathore, Surajit Gorai, Gitikash Purkayastha, Kinnor Das, Prajwal Pudasaini   +4 more
wiley   +1 more source

Az ABC-fehérjék Tudományos Iskolája: a gének regulációjától a transzport-mechanizmusig = The School of ABC-proteins: From Gene Regulation to Transport Mechanism [PDF]

, 2010
Megállapítottuk, hogy az ABCC6 gén duplikációi a low-copy repeat 16a elemekhez kötődnek, és ilyen duplikációk több alkalommal is bekövetkeztek különböző főemlős fajokban. Populációgenetikai vizsgálatunkban kimutattuk, hogy egy inaktív ABCC6 allél növeli
Arányi, Tamás, Bakos, Éva, Fülöp, Krisztina, Iliás, Attila, Pomozi, Viola, Szabó, Zalán, Szakács, Gergely, Szeri, Flóra, Tusnády, Gábor, Váradi, András   +9 more
core  

Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa

Oral Diseases, Volume 31, Issue 6, Page 1900-1908, June 2025.
ABSTRACT Introduction Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.
Colomba Besa‐Witto, Ana Ortega‐Pinto, Sebastián Véliz, Marco Cornejo, Ignacia Fuentes, Francis Palisson, Susanne Krämer   +6 more
wiley   +1 more source

Research Models for Studying Vascular Calcification [PDF]

, 2020
Calcification of the vessel wall contributes to high cardiovascular morbidity and mortality. Vascular calcification (VC) is a systemic disease with multifaceted contributing and inhibiting factors in an actively regulated process.
Babic, Milen, Giet, Markus van der, Herrmann, Jaqueline, Schuchardt, Mirjam, Tölle, Markus   +4 more
core   +1 more source

Pseudoxanthoma elasticum: literature review and case reports

Бюллетень сибирской медицины, 2017
The article presents an up-to-date point of view of the etiology, pathogenesis, clinical aspects, diagnosis and treatment of pseudoxanthoma elasticum.
Marina A. Ufimtseva, Juri M. Bochkarev, Olga D. Lesnsya, Tatiana A. Beresneva   +3 more
doaj   +1 more source

Vitamin K preserves gamma‐glutamyl carboxylase activity against carbamylations in uremia: Implications for vascular calcification and adjunct therapies

Acta Physiologica, Volume 241, Issue 5, May 2025.
The source of the GGCX protein structure is uniprot, (image in the upper left of the graphical): this is the weblink: https://www.uniprot.org/uniprotkb/P38435/entry Abstract Aim Vascular calcification contributes to morbidity and mortality in aging and is accelerated in diabetes and in chronic kidney disease. Matrix Gla Protein is a potent inhibitor of
Nadine Kaesler, Suresh Kaushik, Janina Frisch, Susanne Ziegler, Jochen Grommes, Alexander Gombert, Leticia Prates Roma, Christoph Kuppe, Joachim Jankowski, Jürgen Floege, Sofia de la Puente‐Secades, Rafael Kramann, Vera Jankowski   +12 more
wiley   +1 more source

Familial pseudoxanthoma elasticum with nephrocalcinosis: a case report [PDF]

, 2013
Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by progressive calcification and fragmentation of elastic fibres. PXE commonly involves the reticular dermis, the Bruch membrane of the eye, and blood vessels. PXE is
Beirão, I., Beirão, J.M., Cabrita, A., Costa, P.P., Freitas, C., Lacerda, P., Pestana, P., Rocha, M.J.   +7 more
core  

Pharmacokinetics and Safety of Oral Pyrophosphate in Systemic Sclerosis Patients—A Pilot Study

ACR Open Rheumatology, Volume 7, Issue 4, April 2025.
Objective Calcinosis is a manifestation of systemic sclerosis with a severe negative impact on quality of life. Efforts to find a treatment for calcinosis have been hindered by our limited understanding of the underlying pathomechanism. We propose that extracellular pyrophosphate deficiency may have a causal role in the formation of these mineralized ...
Gergely Bodor, Márta Bocskai, Ágnes Dura, László Kovács, András Váradi, Eszter Kozák   +5 more
wiley   +1 more source