Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Brain

Volumn 138, Issue 8, 2015, Pages 2173-2190

  Jinks, Robert N ^a   Puffenberger, Erik G ^a,b   Baple, Emma ^c,d,e   Harding, Brian ^f   Crino, Peter ^g   Fogo, Agnes B ^h   Wenger, Olivia ^i,j   Xin, Baozhong ^k   Koehler, Alanna E ^a   McGlincy, Madeleine H ^a   Provencher, Margaret M ^a   Smith, Jeffrey D ^a   Tran, Linh ^a   Al Turki, Saeed ^l   Chioza, Barry A ^m   Cross, Harold ⁿ   Harlalka, Gaurav V ^m   Hurles, Matthew E ^l   Maroofian, Reza ^m   Heaps, Adam D ^b   Morton, Mary C ^b   Stempak, Lisa ^o,p   Hildebrandt, Friedhelm ^q,r   Sadowski, Carolin E ^r   Zaritsky, Joshua ^s   Campellone, Kenneth ^t   Morton, D Holmes ^a,b,u   Wang, Heng ^k,v   Crosby, Andrew ^c   Strauss, Kevin A ^a,b,u   more..

^a FRANKLIN AND MARSHALL COLLEGE   (United States)

^b CLINIC FOR SPECIAL CHILDREN   (United States)

^c ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^e PRINCESS ANNE HOSPITAL   (United Kingdom)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ New Leaf Clinic for Special Children   (United States)

^j AKRON CHILDREN'S HOSPITAL   (United States)

^k DDC Clinic for Special Needs Children   (United States)

^l WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^m UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

ⁿ UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^o UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^p CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^q HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^r BOSTON CHILDREN S HOSPITAL   (United States)

^s NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^t UNIVERSITY OF CONNECTICUT   (United States)

^u LANCASTER GENERAL HOSPITAL   (United States)

^v CASE WESTERN RESERVE UNIVERSITY   (United States)

more..

Author keywords

cerebellar hypoplasia; mitosis; mTOR; nephrosis; progressive microcephaly

Indexed keywords

ALPHA TUBULIN; ASPARTATE CARBAMOYLTRANSFERASE; BETA TUBULIN; CARBAMOYL PHOSPHATE SYNTHASE; DIHYDROOROTASE; GAMMA TUBULIN; HEAT SHOCK PROTEIN 70; HEAT SHOCK PROTEIN 90; HYBRID PROTEIN; PROTEIN; RECOMBINANT PROTEIN; S6 KINASE; UNCLASSIFIED DRUG; WD REPEAT PROTEIN 73; TUBULIN; WDR73 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMISH; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; CAUSE OF DEATH; CELL AGING; CELL CYCLE PROGRESSION; CELL CYCLE REGULATION; CELL DIVISION; CELL PROLIFERATION; CELL SURVIVAL; CEREBELLUM ATROPHY; CEREBELLUM DISEASE; CEREBELLUM GRANULAR LAYER; CHILD; CHOLINERGIC NERVE CELL; CHROMOSOME 15; CHROMOSOME MAP; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEAFFERENTATION; EXTRAPYRAMIDAL SYMPTOM; FEMALE; FIBROBLAST; FOCAL GLOMERULOSCLEROSIS; FRAMESHIFT MUTATION; GALLOWAY MOWAT SYNDROME; GENE; GENE MAPPING; GENOTYPE; GLIOSIS; HAPLOTYPE; HEMISPHERE; HIPPOCAMPUS; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTERNEURON; KIDNEY BIOPSY; KIDNEY CELL; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY PARENCHYMA; LATERAL GENICULATE BODY; MALE; MICROCEPHALY; MICROTUBULE; MICROVILLUS; MITOSIS; MULTIPLEX POLYMERASE CHAIN REACTION; NEPHROSIS; NEUROPATHOLOGY; NEXT GENERATION SEQUENCING; OPTIC NERVE ATROPHY; PHENOTYPE; PODOCYTE; PRESCHOOL CHILD; PRIMARY CULTURE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; PSYCHOMOTOR RETARDATION; PURKINJE CELL; SCHOOL CHILD; VISUAL IMPAIRMENT; BRAIN; CELL CYCLE; GENETICS; HIATUS HERNIA; INFANT; METABOLISM; MUTATION; YOUNG ADULT;

ADOLESCENT; ADULT; BRAIN; CELL CYCLE; CHILD; CHILD, PRESCHOOL; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HERNIA, HIATAL; HOMOZYGOTE; HUMANS; INFANT; MALE; MICROCEPHALY; MUTATION; NEPHROSIS; PROTEINS; TUBULIN; YOUNG ADULT;

EID: 84940068672     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv153     Document Type: Article

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