Search Results - "Katsanis, N"

Genetic variation across the human olfactory receptor repertoire alters odor perception by Trimmer, C., Keller, A., Murphy, N. R., Snyder, L. L., Willer, J. R., Nagai, M. H., Katsanis, N., Vosshall, L. B., Matsunami, H., Mainland, J. D.

“…Humans use a family of more than 400 olfactory receptors (ORs) to detect odors, but there is currently no model that can predict olfactory perception from…”
Get full text

The oligogenic properties of Bardet–Biedl syndrome by KATSANIS, Nicholas

“…Bardet–Biedl syndrome (BBS: OMIM 209900) is a rare developmental disorder that exhibits significant clinical and genetic heterogeneity. Although modeled…”
Get full text

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability by Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., Stegmann, A. P. A., Stevens, S. J. C., Lelieveld, S. H., Gilissen, C., Pfundt, R., Tan, P. L., Kleefstra, T., Franke, B., Elgersma, Y., Katsanis, N., Brunner, H. G.

“…De novo mutations in specific mTOR pathway genes cause brain overgrowth in the context of intellectual disability (ID). By analyzing 101 mMTOR-related genes in…”
Get full text

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping by Harville, H M, Held, S, Diaz-Font, A, Davis, E E, Diplas, B H, Lewis, R A, Borochowitz, Z U, Zhou, W, Chaki, M, MacDonald, J, Kayserili, H, Beales, P L, Katsanis, N, Otto, E, Hildebrandt, F

“…Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive disorder characterised by the five cardinal features retinitis pigmentosa, postaxial…”
Get more information

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease by Muller, Jean, Stoetzel, C, Vincent, M. C, Leitch, C. C, Laurier, V, Danse, J. M, Hellé, S, Marion, V, Bennouna-Greene, V, Vicaire, S, Megarbane, A, Kaplan, J, Drouin-Garraud, V, Hamdani, M, Sigaudy, S, Francannet, C, Roume, J, Bitoun, P, Goldenberg, A, Philip, N, Odent, S, Green, J, Cossée, M, Davis, E. E, Katsanis, N, Bonneau, D, Verloes, A, Poch, O, Mandel, J. L, Dollfus, H

“…Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and…”
Get full text

Exploring the molecular basis of Bardet-Biedl syndrome by KATSANIS, Nicholas, LUPSKI, James R, BEALES, Philip L

“…Few autosomal recessive disorders display the degree of pleiotropism and genetic heterogeneity found in Bardet-Biedl syndrome (BBS), a genetic disorder…”
Get full text

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder by Katsanis, Nicholas, Ansley, Stephen J., Badano, Jose L., Eichers, Erica R., Lewis, Richard Alan, Hoskins, Bethan E., Scambler, Peter J., Davidson, William S., Beales, Philip L., Lupski, James R.

“…Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include pigmentary retinal dystrophy,…”
Get full text

Thermosensory and mechanosensory perception in human genetic disease by Tan, Perciliz L., Katsanis, Nicholas

“…Peripheral sensory perception is established through an elaborate network of specialized neurons that mediate the translation of extraorganismal stimuli…”
Get full text

Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome by Ashkinadze, E, Rosen, T, Brooks, SS, Katsanis, N, Davis, EE

“…Bardet–Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis…”
Get full text

Microtubule transport defects in neurological and ciliary disease by Gerdes, J M, Katsanis, N

“…Microtubules are primarily responsible for facilitating long-distance transport of both proteins and organelles. Given the critical role of this process in…”
Get full text

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease by de Pontual, L., Pelet, A., Clement-Ziza, M., Trochet, D., Antonarakis, S.E., Attie-Bitach, T., Beales, P.L., Blouin, J.-L., Dastot-Le Moal, F., Dollfus, H., Goossens, M., Katsanis, N., Touraine, R., Feingold, J., Munnich, A., Lyonnet, S., Amiel, J.

“…Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all…”
Get full text

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT by Davis, E.E., Savage, J.H., Willer, J.R., Jiang, Y.-H., Angrist, M., Androutsopoulos, A., Katsanis, N.

“…Skeletal dysplasias are challenging to diagnose because of their phenotypic variability, genetic heterogeneity, and diverse inheritance patterns. We conducted…”
Get full text

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly by Schaefer, E., Zaloszyc, A., Lauer, J., Durand, M., Stutzmann, F., Perdomo-Trujillo, Y., Redin, C., Bennouna Greene, V., Toutain, A., Perrin, L., Gérard, M., Caillard, S., Bei, X., Lewis, R.A., Christmann, D., Letsch, J., Kribs, M., Mutter, C., Muller, J., Stoetzel, C., Fischbach, M., Marion, V., Katsanis, N., Dollfus, H.

“…The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl…”
Get full text

From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape by Lu, Q, Koutroumpas, K, Boldt, K, Reeuwijk, J Van, Katsanis, N, Képès, F, Roepman, R, Ueffing, M, Russell, RB

Get full text

Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics by Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Horn, N, Beersum, S Van, Texier, Y, Nguyen, TM, Willer, JR, Katsanis, N, Képès, F, Russell, RB, Ueffing, M, Roepman, R

Get full text

Paralogy mapping : Identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci by KATSANIS, N, FITZGIBBON, J, FISHER, E. M. C

“…The human genome contains a group of gene families whose members map within the same regions of chromosomes 1, 6, and 9. The number of gene families involved…”
Get full text

Genetic modifiers and oligogenic inheritance by Kousi, Maria, Katsanis, Nicholas

“…Despite remarkable progress in the identification of mutations that drive genetic disorders, progress in understanding the effect of genetic background on the…”
Get full text

New Polymorphic Short Tandem Repeats for PCR-based Charcot-Marie-Tooth Disease Type 1A Duplication Diagnosis by Badano, Jose L, Inoue, Ken, Katsanis, Nicholas, Lupski, James R

“…Charcot-Marie-Tooth disease type 1A (CMT1A) accounts for 70-90% of cases of CMT1 and is most frequently caused by the tandem duplication of a 1.4-Mb genomic…”
Get full text

Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 (PRMT1) gene by Katsanis, N, Yaspo, M L, Fisher, E M

“…Human chromosome (Chr) 21 is the smallest and one of the most intensely studied autosomes. It has served as a paradigm for the Human Genome Project, being the…”
Get full text

Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1 by Katsanis, N, Shroyer, NF, Lewis, RA, Cavender, JC, Al-Rajhi, AA, Jabak, M, Lupski, JR

“…Fundus albipunctatus (FA; OMIM 136880) is a rare form of apparently stationary night blindness characterized by the presence of myriad symmetrical round white…”
Get full text