Abstract is: Friedhelm Hildebrandt (born February 11, 1957) is the William E. Harmon Professor of Pediatrics at Harvard Medical School and Chief of the Division of Nephrology at Boston Children's Hospital. He was formerly an Investigator of the Howard Hughes Medical Institute (HHMI) and the Frederick G.L. Huetwell Professor of Pediatrics at the University of Michigan.
| human | Q5 |
| P8168 | FactGrid item ID | Q885329 |
| P227 | GND ID | 120990954 |
| P2671 | Google Knowledge Graph ID | /g/11f0x9dxm_ |
| P269 | IdRef ID | 074471740 |
| P213 | ISNI | 0000000045409273 |
| P10299 | Leopoldina member ID (new) | friedhelm-hildebrandt |
| P244 | Library of Congress authority ID | n99801136 |
| P8189 | National Library of Israel J9U ID | 987007459942605171 |
| P691 | NL CR AUT ID | mub2012688084 |
| P1015 | NORAF ID | 99070126 |
| P496 | ORCID iD | 0000-0002-7130-0030 |
| P214 | VIAF ID | 10690975 |
| P166 | award received | E. Mead Johnson Award | Q5322058 |
| P27 | country of citizenship | United States of America | Q30 |
| Germany | Q183 | ||
| P69 | educated at | University of Marburg | Q155354 |
| Heidelberg University Faculty of Medicine in Mannheim | Q5698722 | ||
| P108 | employer | University of Michigan | Q230492 |
| Boston Children's Hospital | Q1000479 | ||
| Howard Hughes Medical Institute | Q1512226 | ||
| P734 | family name | Hildebrandt | Q28150705 |
| Hildebrandt | Q28150705 | ||
| Hildebrandt | Q28150705 | ||
| P101 | field of work | genetics | Q7162 |
| molecular medicine | Q3523816 | ||
| emergency medicine | Q2861470 | ||
| P735 | given name | Friedhelm | Q1457168 |
| Friedhelm | Q1457168 | ||
| P1412 | languages spoken, written or signed | English | Q1860 |
| P463 | member of | German Academy of Sciences Leopoldina | Q543804 |
| P106 | occupation | physician | Q39631 |
| researcher | Q1650915 | ||
| P21 | sex or gender | male | Q6581097 |
| Q28591854 | 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide |
| Q24309499 | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies |
| Q24305835 | A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution |
| Q21145017 | A systematic approach to mapping recessive disease genes in individuals from outbred populations |
| Q28000057 | A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition |
| Q28509528 | AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis |
| Q47561032 | Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. |
| Q91997808 | Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract |
| Q24644138 | CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 |
| Q24301924 | CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium |
| Q24606103 | COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness |
| Q24299464 | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy |
| Q30497359 | Characterization of mesonephric development and regeneration using transgenic zebrafish |
| Q24311957 | DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling |
| Q93086724 | Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome |
| Q24338649 | Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans |
| Q24303601 | Evolutionarily assembled cis-regulatory module at a human ciliopathy locus |
| Q24294774 | Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling |
| Q34680591 | Genetic Drivers of Kidney Defects in the DiGeorge Syndrome |
| Q28118065 | Genetic and physical interaction between the NPHP5 and NPHP6 gene products |
| Q91226891 | Healthcare recommendations for Joubert syndrome |
| Q64104510 | Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly |
| Q56967912 | Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants |
| Q28278336 | Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome |
| Q24671808 | In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse |
| Q24300810 | Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy |
| Q24314517 | Jouberin localizes to collecting ducts and interacts with nephrocystin-1 |
| Q28586772 | Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis |
| Q98778014 | MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome |
| Q24563846 | Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36 |
| Q24302034 | Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways |
| Q24634201 | Mechanisms of Nephronophthisis and Related Ciliopathies |
| Q28115060 | Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype |
| Q28240476 | Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis |
| Q24292162 | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry |
| Q24297429 | Mutations in EMP2 cause childhood-onset nephrotic syndrome |
| Q28188363 | Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination |
| Q40094779 | Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. |
| Q28975782 | Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis |
| Q24338673 | Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development |
| Q24625476 | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes |
| Q90766741 | Mutations in WDR4 as a new cause of Galloway-Mowat syndrome |
| Q24310102 | Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis |
| Q28116031 | Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome |
| Q55056709 | Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. |
| Q21710711 | Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome |
| Q24306642 | NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis |
| Q24312027 | Nephrocystin-3 is required for ciliary function in zebrafish embryos |
| Q24295284 | Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin |
| Q27313602 | Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition |
| Q92837415 | Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome |
| Q96019143 | Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT) |
| Q24312154 | Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible |
| Q28507239 | SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex |
| Q24292967 | SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes |
| Q64096712 | Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis |
| Q26862475 | Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans |
| Q24336477 | The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 |
| Q24308784 | The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome |
| Q90712113 | The copy number variation landscape of congenital anomalies of the kidney and urinary tract |
| Q24312749 | The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes |
| Q24682920 | Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome |
| Q24312017 | ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 |
| Q51730557 | ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. |
| Friedhelm Hildebrandt | wikipedia |
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