Results 51 to 60 of about 210,359 (304)

Natural Resistance to Ovarian Hyperstimulation Syndrome in Estrildid Finches Reveals Macrophage GPR183 as a Potential Therapeutic Target

Advanced Science, EarlyView.
Ovarian macrophage depletion reverses OHSS resistance in estrildid finches and exacerbates OHSS symptoms in rats. Activating macrophage GPR183 alleviates OHSS by reducing pro‐inflammatory factors, increasing immunomodulatory molecules, remodeling CD44/SDC4‐mediated communication, and restoring immune homeostasis.
Xiaofei Yan, Yongjie Huang, Jiabao Yang, Su Ma, Songsong Liu, Xuan Huang, Juergen Brosius, Huaping Zheng, Bing Yao, Li Chen, Shanshan Lai, Cheng Deng   +11 more
wiley   +1 more source

Combined atypical primary hypoadrenocorticism and primary hypothyroidism in a dog [PDF]

, 2016
A dog with combined atypical primary hypoadrenocorticism and primary hypothyroidism is described. The dog presented with waxing and waning, vague complaints since more than a year and had been treated with several drugs without complete resolution of ...
Binst, Dominique, Daminet, Sylvie, Martlé, Valentine, Paepe, Dominique, Smets, Pascale, Vanmal, Britt   +5 more
core  

TRH: Pathophysiologic and clinical implications [PDF]

, 1985
Thyrotropin releasing hormone is thought to be a tonic stimulator of the pituitary TSH secretion regulating the setpoint of the thyrotrophs to the suppressive effect of thyroid hormones. The peptide stimulates the release of normal and elevated prolactin.
A. Enjalbert, A. H. Barnett, A. H. Tashjian, A. I. Faden, A. J. L. Clark, A. Mongioi, B. M. Arafah, C. Carr, C. Faglia, C. M. Feek, C. R. Pickardt, C. R. Pickardt, C. R. Pickardt, C. R. Pickardt, C. R. Pickardt, C. R. Pickardt, D. Evain-Brion, D. S. Cooper, E. Flückiger, E. Hefco, E. Montoya, E. Roti, F. Guignier, F. Labrie, F. Massara, G. E. Shambaugh III, G. F. F. Pieters, G. Faglia, G. Faglia, G. Faglia, G. Faglia, G. Faglia, G. N. Burrow, G. P. Ceda, H. J. Chen, H. M. Fraser, J. B. Martin, J. F. Wilber, J. Habermann, J. J. Staub, J. Klindt, J. Köbberling, J. R. Sowers, J. R. Sowers, J. Sack, J.-N. Hugues, K. Hiramatsu, K. Horn, K. O. Nillson, K. W. Wenzel, K. Werder von, L. S. Jacobs, L. Wartofsky, L. Ø. Dolva, L. Ø. Dolva, L. Ø. Dolva, M. F. Scanlon, M. F. Scanlon, M. F. Scanlon, M. L'Hermite, M. M. Rabello, M. Otsuki, M. Szabo, O. Benkert, P. C. Scriba, P. C. Scriba, P. C. Scriba, P. J. Snyder, R. A. Maurer, R. Hall, R. M. Lechan, S. Ahuja, S. F. Kuku, S. Refetoff, S. Urman, St. M. Foord, T. K. Mallik, T. Mitsuma, V. B. Petersen, W. E. Cobb, W. K. Engel, W. Vale, Y. Koch   +82 more
core   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Iodine status during pregnancy in India and related neonatal and infant outcomes [PDF]

, 2013
Objective: To document iodine status in Indian pregnancies, associations with maternal diet and demographics, and offspring developmental measures.
Andersson, Blazer, Bleichrodt, Chakraborty, Chakraborty, Chanoine, Chittaranjan S Yajnik, Dattatray S Bhat, Deepa A Raut, Emilie Combet, Hamrosi, Himangi G Lubree, Kapil, Kapil, Kapil, Kapil, Katre, Kochupillai, Kumar, Mackerras, Mazumdar, Mike EJ Lean, Misra, Morven IFA Lean, Rao, Rendina, Saikia, Sooch, Suyog M Joshi   +28 more
core   +2 more sources

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 more
core   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Secondary hypothyroidism in adults: diagnosis and treatment

Клиническая и экспериментальная тиреоидология, 2019
Secondary hypothyroidism is a rare disease. There is a number of questions and difficulties in diagnosis and management of this condition. There are two forms of secondary hypothyroidism: congenital (casuistic seldom) and acquired.
Tatiana A. Kienia, Tatiana B. Morgunova, Valentin V. Fadeyev   +2 more
doaj   +1 more source