about
A systematic approach to mapping recessive disease genes in individuals from outbred populationsLoss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin diseaseMutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyMutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing lossMutation of POC1B in a severe syndromic retinal ciliopathyMutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsLRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromePDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeLoss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessPositional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleThe nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.CEP152 is a genome maintenance protein disrupted in Seckel syndromeFaulty initiation of proteoglycan synthesis causes cardiac and joint defectsLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaCDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyMutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expressionMutations in PYCR1 cause cutis laxa with progeroid featuresFamilial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsMutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyRecessive mutations in DGKE cause atypical hemolytic-uremic syndromeCOQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiencyA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyExome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and MicrocephalyMutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemiaMutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuriaLoss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosisNon-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneInhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signalingA missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
P50
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P50
description
hulumtuese
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onderzoeker
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researcher
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հետազոտող
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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Gudrun Nürnberg
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