Results 91 to 100 of about 7,038 (206)

Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor [PDF]

, 2007
More than 70 missense mutations have been identified in the human melanocortin 4 receptor (MC4R), and many of them have been associated with obesity. In a number of cases, the causal link between mutations in MC4R and obesity is controversially discussed.
Annette Grüters, Buono, Christian Pitra, Claudia Stäubert, Cone, Haitina, Harald Brumm, Heike Biebermann, Hinney, Holger Römpler, Huszar, Jacobson, Kim, Larsen, Lubrano-Berthelier, Mergen, Patrick Tarnow, Ringholm, Salomon, Sangkuhl, Schioth, Schoneberg, Schoneberg, Schulz, Talbot, Tao, Tao, Tarnow, Thomas Gudermann, Torsten Schöneberg, Vaisse, VanLeeuwen, Xiang, Yeo, Yeo   +34 more
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Partial nephrogenic diabetes insipidus associated with Castleman’s disease

BMC Nephrology, 2019
Background Nephrogenic diabetes insipidus (DI) secondary to a urinary tract obstruction is a rare condition. Herein, we report a case of partial nephrogenic DI due to obstructive uropathy in a patient with Castleman’s disease. Case presentation A 78-year-
Minah Kim, Hong Sang Choi, Eun Hui Bae, Seong Kwon Ma, Soo Wan Kim, Chang Seong Kim   +5 more
doaj   +1 more source

X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy

Balkan Journal of Medical Genetics, 2014
Nephrogenic diabetes insipidus (NDI) is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP)/antidiuretic hormone (ADH).
Janchevska A., Tasic V., Gucev Z., Krstevska-Konstantinova M., Cheong H. I.   +4 more
doaj   +1 more source

Feeding difficulties in infancy as an early symptom of different forms of diabetes insipidus – a series of cases

Pediatria Polska
Feeding disorders of infancy are common in paediatric practice. Among rare causes of this disturbance is diabetes insipidus (DI), which is a clinical syndrome characterized by polyuria, polydypsia and dehydration with hypernatraemia.
Katarzyna Anna Banasiak, Małgorzata Barbara Stańczyk, Elżbieta Szczepanik, Katarzyna Monika Krawiranda, Anita Janus, Kacper Piotr Kościelny, Marcin Tkaczyk   +6 more
doaj   +1 more source

Diabetes insípida central en un perro [PDF]

, 1999
Se describe un caso de diabetes insípida central [DIC] en un perro. Este caso es particularmente interesante pues se observan modificaciones electrolíticas poco habituales.
Cano Rábano, María José, Diez Prieto, M. Inmaculada, García Rodríguez, María Belén, Pérez García, Carlos César, Ríos Granja, María Ángeles   +4 more
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Protein quality control: the who's who, the where's and therapeutic escapes [PDF]

, 2018
In cells the quality of newly synthesized proteins is monitored in regard to proper folding and correct assembly in the early secretory pathway, the cytosol and the nucleoplasm.
Fan, Jingyu, Gaplovska-Kysela, Katarina, Guhl, Bruno, Hirano, Kiyoko, Le Fourn, Valerie, Roth, Jürgen, Santimaria, Roger, Torossi, Tania, Yam, Gary, Ziak, Martin, Zuber, Christian   +10 more
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Nephrogenic diabetes insipidus associated with a new mutation in the AVPR2 gene

Ожирение и метаболизм
Diabetes insipidus (DI) is an orphan disease clinically characterized by profound thirst and the excretion of large volumes of dilute urine. Nephrogenic diabetes insipidus (NDI) is characterized by resistance to the action of antidiuretic hormone (ADH ...
Y. A. Aleynikova, M. S. Berlovich, E. A. Pigarova, L. K. Dzeranova, M. S. Pankratova   +4 more
doaj   +1 more source

Síndrome poliuria-polidipsia : ¿Como abordaría el diagnóstico? [PDF]

, 1989
El síndrome poliuria-polidipsia (PU/PD) es una entidad clínica que se presenta como signo predominante de numerosos procesos del perro y del gato. Tras un recuerdo fisiológico de los factores reguladores de la homeostasis del agua, presentamos las ...
Aceña Fabián, M. Carmen, Aznar Chicote, J., Díez González, R., García-Belenguer, Sylvia, Marca Andrés, Mª C., Verde Arribas, Mª T.   +5 more
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Cancer and the Kidney [PDF]

, 1978
Cancer of the kidney is associated with a bewildering array of extrarenal symptoms, and conversely, tumors far removed from the kidney produce intriguing renal functional abnormalities.
Oken, Donald E.
core   +1 more source

LABRAD : Vol 34, Issue 2 - May 2009 [PDF]

, 2009
Acute Leukemia Immunophenotyping with Pakistani Perspective PAX5: Immunohistochemistry Marker for B cell Lymphoproliferative Disorders Understanding the Water Deprivation Test Gonadotropins Releasing Hormone (GnRH) Stimulation Test Haematology Quiz Red ...
Aga Khan University Hospital, Karachi
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