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4 Possible Causes for Mutation in the TUB Gene

  • Obesity due to Congenital Leptin Deficiency

    […] in the TUB gene associated with retinal dystrophy and obesity.”[] Hum Mutat 35(3):289-93 Details Ding Z, Mangino M, Aviv A, Spector T, Durbin R, UK10K Consortium (2014), “Estimating telomere length from whole genome sequence data.”[] Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT (2014), “A homozygous mutation[]

  • Retinitis Pigmentosa Type 4

    […] the highly homologous mouse tub gene leads to obesity, deafness and early progressive retinal degeneration4–6.[] TULP1 (the gene encoding tubby-like protein 1) is a candidate target for the disease mutation because it maps to the RP14 minimum genetic region and because a mutation in[] Here we report a splice-site mutation (IVS14 1, G A) that is homozygous in all affected individuals (N 33) and heterozygous in all obligate carriers (N 50) from two RP14-1[]

  • Retinitis Pigmentosa 11

    […] in TULP1 have previously been identified in patients with Leber congenital amaurosis and in patients having RP with early or juvenile onset. 3 - 8 The tub and tubbylike ([] TULP ) gene family consists of 4 members ( TUB , TULP1 , TULP2 , and TULP3 ), which have been identified in plants and in animals. 9 , 10 TULP protein has an essential role[] […] abnormal or nondetectable electroretinographic responses, and as the disease progresses, melanin pigments like bone spicules appear, along with attenuated retinal vessels. 2 Mutations[]

  • Antipsychotic Agent

    gene mutation) [87] and diet-induced obese mice [88].[] gene mutation) [87] and diet-induced obese mice [88] .[] […] signalling leads to obesity in the clinic and in animal models of obesity, for example, POMC mRNA expression is attenuated in genetically obese Zucker rats [86], tubby mice ( tub[]

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