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by Kiryluk, Krzysztof and Li, Yifu and Scolari, Francesco and Sanna-Cherchi, Simone and Choi, Murim and Verbitsky, Miguel and Fasel, David and Lata, Sneh and Prakash, Sindhuri and Shapiro, Samantha and Fischman, Clara and Snyder, Holly J and Appel, Gerald and Izzi, Claudia and Viola, Battista Fabio and Dallera, Nadia and Del Vecchio, Lucia and Barlassina, Cristina and Salvi, Erika and Bertinetto, Francesca Eleonora and Amoroso, Antonio and Savoldi, Silvana and Rocchietti, Marcella and Amore, Alessandro and Peruzzi, Licia and Coppo, Rosanna and Salvadori, Maurizio and Ravani, Pietro and Magistroni, Riccardo and Ghiggeri, Gian Marco and Caridi, Gianluca and Bodria, Monica and Lugani, Francesca and Allegri, Landino and Delsante, Marco and Maiorana, Mariarosa and Magnano, Andrea and Frasca, Giovanni and Boer, Emanuela and Boscutti, Giuliano and Ponticelli, Claudio and Mignani, Renzo and Marcantoni, Carmelita and Di Landro, Domenico and Santoro, Domenico and Pani, Antonello and Polci, Rosaria and Feriozzi, Sandro and Chicca, Silvana and Galliani, Marco and Gigante, Maddalena and Gesualdo, Loreto and Zamboli, Pasquale and Battaglia, Giovanni Giorgio and Garozzo, Maurizio and Maixnerová, Dita and Tesar, Vladimir and Eitner, Frank and Rauen, Thomas and Floege, Jürgen and Kovacs, Tibor and Nagy, Judit and Mucha, Krzysztof and Pazek, Leszek and Zaniew, Marcin and Mizerska-Wasiak, Maa'Gorzata and Roszkowska-Blaim, Maria and Pawlaczyk, Krzysztof and Gale, Daniel and Barratt, Jonathan and Thibaudin, Lise and Berthoux, Francois and Canaud, Guillaume and Boland, Anne and Metzger, Marie and Panzer, Ulf and Suzuki, Hitoshi and Goto, Shin and Narita, Ichiei and Caliskan, Yasar and Xie, Jingyuan and Hou, Ping and Chen, Nan and Zhang, Hong and Wyatt, Robert J and Novak, Jan and Julian, Bruce A and Feehally, John and Stengel, Benedicte and Cusi, Daniele and Lifton, Richard P and Gharavi, Ali G
Nature Genetics, ISSN 1061-4036, 11/2014, Volume 46, Issue 11, pp. 1187 - 1196
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 4, pp. 321 - 329
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2013, Volume 123, Issue 6, pp. 2421 - 2433
The osteoblast-derived hormone osteocalcin promotes testosterone biosynthesis in the mouse testis by binding to GPRC6A in Leydig cells. Interestingly,... 
MEDICINE, RESEARCH & EXPERIMENTAL | SERUM OSTEOCALCIN | TESTOSTERONE | INSULIN-RESISTANCE | PRIMARY TESTICULAR FAILURE | MEN | OSTEOBLASTS | MICE | SECRETION | ENERGY-METABOLISM | CELL | Physiological aspects | Genetic aspects | Research | Pancreas | Peptide hormones | Fertility, Human | Cell culture | Testosterone | Sperm | Rodents | Men | Biosynthesis | Genetic testing | Experiments | Deoxyribonucleic acid--DNA
Journal Article
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 04/2019, Volume 10, p. 336
Congenital analbuminemia (CAA) is an inherited, autosomal recessive disorder with an incidence of 1:1,000,000 live birth. Affected individuals have a strongly... 
preterm birth | DNA-sequencing | hyperlipidemia | HUMAN SERUM-ALBUMIN | SPLICING MUTATION | pathogenic variations | RECEPTOR | compensatory mechanisms | FRAMESHIFT | analbuminemia | MUTATION CAUSES ANALBUMINEMIA | frequency | DELETION | PHARMACOKINETICS | METABOLISM | GENETICS & HEREDITY | PATIENT | autosomal recessive | NONSENSE MUTATION
Journal Article
Kidney International, ISSN 0085-2538, 12/2017, Volume 92, Issue 6, pp. 1507 - 1514
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2012, Volume 7, Issue 1, p. e29150
Journal Article
by Azukaitis, Karolis and Ju, Wenjun and Kirchner, Marietta and Nair, Viji and Smith, Michelle and Fang, Zhiyin and Thurn-Valsassina, Daniela and Bayazit, Aysun and Niemirska, Anna and Canpolat, Nur and Bulut, Ipek Kaplan and Yalcinkaya, Fatos and Paripovic, Dusan and Harambat, Jerome and Cakar, Nilgun and Alpay, Harika and Lugani, Francesca and Mencarelli, Francesca and Civilibal, Mahmut and Erdogan, Hakan and Gellermann, Jutta and Vidal, Enrico and Tabel, Yilmaz and Gimpel, Charlotte and Ertan, Pelin and Yavascan, Onder and Melk, Anette and Querfeld, Uwe and Wühl, Elke and Kretzler, Matthias and Schaefer, Franz and Arbeiter, Klaus and Rosales, Alejandra and Dusek, Jiri and Zaloszyc, Ariane and Liebau, Max and Weber, Lutz and Muschiol, Evelin and Büscher, Rainer and Oh, Jun and Thurn-Valassina, Daniela and Haffner, Dieter and John, Ulrike and Wygoda, Simone and Jeck, Nickola and Jeck, Nikola and Wigger, Marianne and Testa, Sara and Murer, Luisa and Matteucci, Chiara and Jankauskiene, Augustina and Drozdz, Dorota and Zurowska, Aleksandra and Zaniew, Marcin and Litwin, Mieczyslaw and Nimierska, Anna and Teixeira, Ana and Peco-Antic, Amira and Laube, Guido and Anarat, Ali and Duzova, Ali and Bilginer, Yelda and Caliskan, Salim and Mir, Sevgi and Sözeri, Betül and Kranz, Brigitta and Dorn, Brigitte and Baskin, Esra and Soylemezoglu, Oguz and Emre, Sevinc and Candan, Cengiz and Kiyak, Aysel and Ozcelik, Gul and Shroff, Rukshana and Rachin, Bruno and Szczepanska, Maria and Donmez, Osman and Balat, Ayse and Aksu, Nejat and Yilmaz, Ebru and Bakkaloglu, Aysin and Ozaltin, Fatih and Sallay, Peter and Drożdż, Dorota and Bonzel, Klaus-Eugen and Wingen, Anna-Margrete and Żurowska, Aleksandra and Balasz, Irena and Trivelli, Antonella and Perfumo, Francesco and Müller-Wiefel, Dirk-Erhard and Möller, Kerstin and Offner, Gisela and Enke, Barbara and Hadtstein, Charlotte and Mehls, Otto and Hohbach-Hohenfellner, Katharina and Klaus, Günter and Ardissino, Gianluigi and Montini, Giovanni and ... and ESCAPE Trial Group and 4C Study and 4C Study & ESCAPE Trial Grp
Kidney International, ISSN 0085-2538, 07/2019, Volume 96, Issue 1, pp. 214 - 221
Urinary epidermal growth factor (uEGF) has recently been identified as a promising biomarker of chronic kidney disease (CKD) progression in adults with... 
pediatric CKD | chronic kidney disease | CKD progression | epidermal growth factor | YOUNG-ADULTS | RISK-FACTORS | ROLES | EGF | UROLOGY & NEPHROLOGY | EXCRETION
Journal Article
Clinical nephrology, ISSN 0301-0430, 09/2019, Volume 92, Issue 3, pp. 151 - 154
Autosomal dominant tubulointerstitial kidney disease (ADTKD) belongs to a group of renal hereditary disorders linked by common findings of tubulointerstitial... 
UROLOGY & NEPHROLOGY | hyperuricemia | uromodulin | chronic kidney disease | uromodulin-associated kidney disease | DISEASE
Journal Article
Annals of Laboratory Medicine, ISSN 2234-3806, 2018, Volume 38, Issue 2, pp. 185 - 188
Dear Editor, Congenital analbuminemia (CAA; OMIM # 616000) is a rare autosomal recessive disorder characterized by the complete absence (or extremely low... 
MEDICAL LABORATORY TECHNOLOGY | Humans | Genetic Diseases, Inborn - genetics | Serum Albumin - genetics | Sequence Analysis, DNA | Young Adult | Homozygote | RNA Splicing | Turkey | Base Sequence | Female | Algeria | Polymorphism, Single Nucleotide | Genetic Diseases, Inborn - diagnosis | Letter to the Editor | 병리학
Journal Article
Journal Article