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  • May 26, 2017
  • 05:08 AM
  • 11 views

The PI3K/mTOR inhibitor GSK2126458 is effective for treating TSC solid renal tumours

by Joana Guedes in BHD Research Blog

Tuberous sclerosis (TSC) is an inherited tumour syndrome that shares clinical similarities with Birt-Hogg-Dube Syndrome. It is caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR, affecting multiple organs, including the kidney and lung. In the kidney, lesions such as multiple renal cysts and renal cell carcinoma (RCC) can occur. Tumour reduction in TSC patients after treatment with rapamycin, an inhibitor of mTOR, is partial and reversible probably due to feedback activ........ Read more »

  • May 22, 2017
  • 03:00 PM
  • 111 views

Unraveling the Mysteries of Mischievous Microbiome

by Aurametrix team in Aurametrix Blog

Science explains why some people smell worse than others despite keeping themselves squeaky clean. The body is crawling with bacteria increasing the risk for diseases for which we have unreserved levels of sympathy. It can also lead to ​unlikable conditions such as unpredictable and embarrassing outbursts of body odor - so bad it ruins social lives and careers.  But there is no cure for metabolic body odor ... Read more »

  • May 19, 2017
  • 05:13 AM
  • 93 views

Characterization of a FLCN mutation associated with RCC

by Joana Guedes in BHD Research Blog

Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé (BHD) syndrome, a rare disease characterized by renal cell carcinoma (RCC), pneumothorax and fibrofolliculomas. In their new study, Bartram et al. (2017) identify a heterozygous mutation in the FLCN gene in a patient with RCC. DNA from tumour and a metastasis was analysed and the authors demonstrated skipping of exon 11 as the consequence of this mutation leading to a shift in the reading frame and the insertion of a premature sto........ Read more »

Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Göbel H, Franke M, Schermer B, Haneder S.... (2017) Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. BMC medical genetics, 18(1), 53. PMID: 28499369  

  • May 17, 2017
  • 12:00 PM
  • 103 views

Epigenetic Marks Associated to Severe Obesity

by Delphine Fradin in EpiBeat

There is growing evidence that DNA methylation might contribute to obesity. Candidate gene methylation studies in animal models and humans have demonstrated methylation changes in promoters of various genes that are implicated in obesity, appetite control and/or metabolism, insulin signaling, immunity, growth and circadian clock regulation.

Severe obesity in children is defined as greater than or equal to 99th percentile of body mass index (BMI) for age and gender or a BMI z-score ≥3.5. Po........ Read more »

Fradin, D., Boëlle, P., Belot, M., Lachaux, F., Tost, J., Besse, C., Deleuze, J., De Filippo, G., & Bougnères, P. (2017) Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children. Scientific Reports, 46311. DOI: 10.1038/srep46311  

  • May 12, 2017
  • 07:00 AM
  • 137 views

Friday Fellow: Spreading Earthmoss

by Piter Boll in Earthling Nature

by Piter Kehoma Boll If you still think mosses are uninteresting lifeforms, perhaps you will change your mind after knowing the spreading earthmoss, Physcomitrella patens. Found in temperate regions of the world, except for South America, but more commonly recorded in … Continue reading →... Read more »

Cove, D. (2005) The Moss Physcomitrella patens. Annual Review of Genetics, 39(1), 339-358. DOI: 10.1146/annurev.genet.39.073003.110214  

  • May 8, 2017
  • 05:45 PM
  • 202 views

Let those who never smelled bad cast the first stone

by Aurametrix team in Aurametrix Blog

Analysis of our metabolism is crucial to comprehending the responses of our genes and microbes to the stresses of daily life, and to elucidating the causes and consequences of health and disease. And measurement of urinary metabolites - small molecules produced from foods, drinks, drugs, environmental contaminants, bodily waste products and bacterial by-products - is key to the analysis. We applied this approach to an elusive condition that has always evaded diagnosis: s........ Read more »

Bouatra, S., Aziat, F., Mandal, R., Guo, A., Wilson, M., Knox, C., Bjorndahl, T., Krishnamurthy, R., Saleem, F., Liu, P.... (2013) The Human Urine Metabolome. PLoS ONE, 8(9). DOI: 10.1371/journal.pone.0073076  

Irene S. Gabashvili. (2017) Raw Data from Clinical Trial NCT02692495. Mendeley Data. info:/DOI: 10.17632/8bk6h6bmkr.1

  • April 27, 2017
  • 08:49 AM
  • 232 views

Code Orange for the Bengal Tiger!

by Jente Ottenburghs in Evolutionary Stories

Genetic study highlights challenging conservation of the Bengal Tiger in India.... Read more »

  • April 24, 2017
  • 04:22 AM
  • 212 views

Promising mouse model for Ngly1 deficiency

by adam phillips in It Ain't Magic

A recent study of Ngly1 deficient mice used a secondary knockout to create double knockouts with symptoms similar to human NGLY1 deficiency.... Read more »

  • April 20, 2017
  • 05:19 AM
  • 250 views

DHM attenuates obesity-induced slow-twitch-fiber decrease via FLCN/FNIP1/AMPK pathway

by Joana Guedes in BHD Research Blog

Obesity is often associated with decreases in the proportion of skeletal muscle slow-twitch fibers and insulin sensitivity. Slow-twitch fibers are rich in mitochondria and utilize fatty acid oxidative phosphorylation for energy production. In their new study, Zhou et al. (2017) explore the role of the FLCN/FNIP1/AMPK signalling pathway in obesity-induced reductions in slow-twitch fibers and insulin sensitivity in skeletal muscle using high-fat-diet-induced (HFD) obese mice, ob/ob mutant mice, an........ Read more »

  • April 7, 2017
  • 06:22 AM
  • 264 views

Novel FLCN mutations in Chinese patients

by Joana Guedes in BHD Research Blog

The gene FLCN is inactivated in individuals with BHD syndrome. The FLCN gene encodes the protein Folliculin, which is a putative tumour suppressor. Over 150 different FLCN mutations have been identified, most of which are likely to be pathogenic (LOVD-hosted FLCN mutation database). The majority of these mutations are frameshift, nonsense, insertion/deletion, or splice site mutations, resulting in truncation and inactivation of the encoded protein folliculin. FLCN consists of 14 exons spanning a........ Read more »

  • April 4, 2017
  • 06:00 PM
  • 193 views

New rice fights off drought

by adam phillips in It Ain't Magic

Researchers have created drought resistant transgenic rice using a gene from a small Eurasian flowering plant.... Read more »

  • March 31, 2017
  • 12:10 PM
  • 315 views

Giving the underserved the care they deserve

by Aurametrix team in Aurametrix Blog

Nobody likes strong smells coming from other human beings. It's just that social convention: you are nice, if you smell nice, and you are a monster  - like Shakespeare's Caliban - if you smell bad. ​Caliban, often depicted as a Golumn-like creature, is one of the first cases of fish odor syndrome described in the literature. No amount of soap and water would help him to wash the smell away, as his body is constantly producing a pungent small molecule trimethylamine. ... Read more »

Guo Y, Hwang LD, Li J, Eades J, Yu CW, Mansfield C, Burdick-Will A, Chang X, Chen Y, Duke FF.... (2017) Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing. BMC medical genetics, 18(1), 11. PMID: 28196478  

Callewaert C, Lambert J, & Van de Wiele T. (2016) Towards a bacterial treatment for armpit malodour. Experimental dermatology. PMID: 27892611  

  • March 24, 2017
  • 07:58 AM
  • 236 views

Ammonium regulates mTOR signalling

by Joana Guedes in BHD Research Blog

mTORC1 and mTORC2 are two distinct mammalian TOR (target of rapamycin) complexes that regulate cell growth and metabolism. In cancer, genetic alterations lead to activation of mTOR signalling impacting tumour metabolism. Upregulated glutaminolysis is part of the metabolic reaction occurring in cancer that liberates high levels of ammonium, a toxic waste product. Although the importance of glutamine as a tumour nutrient is recognized, little is known about the potential effects of ammonium produc........ Read more »

  • March 15, 2017
  • 08:30 AM
  • 315 views

CHL1 Hypermethylation in Breast Cancer

by Esperanza Martín Sánchez in EpiBeat

Breast cancer (BC) is the most common cancer among women and one of the leading causes of cancer-related deaths worldwide (1-3). It is a clinically heterogeneous disease, with at least 5 different subtypes (4) and quite variable prognosis, even within a subtype. In spite of early detection programmes, unfortunately 20-30% of early stage cases will eventually experience recurrence and develop distant metastasis. However, currently, there is no acceptable method for monitoring patients who are lik........ Read more »

Martín-Sánchez E, Mendaza S, Ulazia-Garmendia A, Monreal-Santesteban I, Blanco-Luquin I, Córdoba A, Vicente-García F, Pérez-Janices N, Escors D, Megías D.... (2017) CHL1 hypermethylation as a potential biomarker of poor prognosis in breast cancer. Oncotarget. PMID: 28178655  

Stefansson OA, Moran S, Gomez A, Sayols S, Arribas-Jorba C, Sandoval J, Hilmarsdottir H, Olafsdottir E, Tryggvadottir L, Jonasson JG.... (2015) A DNA methylation-based definition of biologically distinct breast cancer subtypes. Molecular oncology, 9(3), 555-68. PMID: 25468711  

He LH, Ma Q, Shi YH, Ge J, Zhao HM, Li SF, & Tong ZS. (2013) CHL1 is involved in human breast tumorigenesis and progression. Biochemical and biophysical research communications, 438(2), 433-8. PMID: 23906755  

Smith RA, Andrews K, Brooks D, DeSantis CE, Fedewa SA, Lortet-Tieulent J, Manassaram-Baptiste D, Brawley OW, & Wender RC. (2016) Cancer screening in the United States, 2016: A review of current American Cancer Society guidelines and current issues in cancer screening. CA: a cancer journal for clinicians, 66(2), 96-114. PMID: 26797525  

Feng W, Shen L, Wen S, Rosen DG, Jelinek J, Hu X, Huan S, Huang M, Liu J, Sahin AA.... (2007) Correlation between CpG methylation profiles and hormone receptor status in breast cancers. Breast cancer research : BCR, 9(4). PMID: 17764565  

Karsli-Ceppioglu S, Dagdemir A, Judes G, Ngollo M, Penault-Llorca F, Pajon A, Bignon YJ, & Bernard-Gallon D. (2014) Epigenetic mechanisms of breast cancer: an update of the current knowledge. Epigenomics, 6(6), 651-64. PMID: 25531258  

Widschwendter M, Siegmund KD, Müller HM, Fiegl H, Marth C, Müller-Holzner E, Jones PA, & Laird PW. (2004) Association of breast cancer DNA methylation profiles with hormone receptor status and response to tamoxifen. Cancer research, 64(11), 3807-13. PMID: 15172987  

Senchenko VN, Krasnov GS, Dmitriev AA, Kudryavtseva AV, Anedchenko EA, Braga EA, Pronina IV, Kondratieva TT, Ivanov SV, Zabarovsky ER.... (2011) Differential expression of CHL1 gene during development of major human cancers. PloS one, 6(3). PMID: 21408220  

  • March 10, 2017
  • 06:05 AM
  • 274 views

Spontaneous Pneumothorax and air travel in BHD Syndrome

by Joana Guedes in BHD Research Blog

Previous studies show that BHD syndrome causes spontaneous pneumothorax (SP) in 24-38% of patients, with a recurrence rate of up to 75% (Toro et al., 2007; Toro et al., 2008; Houweling et al., 2011). A common preventative strategy used following an initial SP in patients with BHD is pleurodesis, however, its efficacy in preventing recurrent episodes is not well known. Due to the pressure changes during air travel, cystic air spaces expand and compress in the thorax possibly leading to cyst ruptu........ Read more »

Gupta N, Kopras EJ, Henske EP, James LE, El-Chemaly S, Veeraraghavan S, Drake MG, & McCormack FX. (2017) Spontaneous Pneumothoraces in Patients with Birt-Hogg-Dubé Syndrome. Annals of the American Thoracic Society. PMID: 28248571  

  • March 8, 2017
  • 08:30 AM
  • 299 views

Epigenetic Predisposition to Radiation Fibrosis

by Christoph Weigel in EpiBeat

Radiotherapy is a highly efficient treatment for many cancers including breast cancer. Intraoperative radiotherapy (IORT), a relatively new type of radiation therapy, has proven successful as a curative treatment for early cancer stages. However, in spite of great improvements in dose delivery and imaging technology, unwanted exposure of healthy tissue to radiation cannot be fully avoided. The resulting late-onset toxicity due to the exposure of health tissue currently limits the usefulness of r........ Read more »

Weigel C, Veldwijk MR, Oakes CC, Seibold P, Slynko A, Liesenfeld DB, Rabionet M, Hanke SA, Wenz F, Sperk E.... (2016) Epigenetic regulation of diacylglycerol kinase alpha promotes radiation-induced fibrosis. Nature communications, 10893. PMID: 26964756  

  • March 3, 2017
  • 05:14 AM
  • 227 views

Rare Disease Day – Findacure Scientific Conference: Drug Repurposing for Rare Diseases

by Joana Guedes in BHD Research Blog

This year’s Findacure Scientific Conference took place in London on Rare Disease Day and was again focused on Drug Repurposing for Rare Diseases. The conference brought together over 100 representatives from patient groups, researchers and members of the healthcare industry to discuss the importance and the latest developments in drug repurposing for rare diseases.... Read more »

  • March 1, 2017
  • 08:00 AM
  • 262 views

Transient Imprinting of Genes in the Human Placenta

by Marta Sanchez Delgado in EpiBeat

When the fertilization occurs, the maternal and paternal pronuclei have thousands of opposite methylated regions. Most of this germline methylation are resolved during the postfertilization epigenetic reprogramming by active mechanism for the sperm-derived methylated regions and depending on DNA replication for the oocyte-derived ones. There is a subset of regions that are known to avoid this demethylation: the imprinted differentially methylated regions (DMRs). The imprinted DMRs are in general........ Read more »

Sanchez-Delgado M, Court F, Vidal E, Medrano J, Monteagudo-Sánchez A, Martin-Trujillo A, Tayama C, Iglesias-Platas I, Kondova I, Bontrop R.... (2016) Human Oocyte-Derived Methylation Differences Persist in the Placenta Revealing Widespread Transient Imprinting. PLoS genetics, 12(11). PMID: 27835649  

Smallwood SA, & Kelsey G. (2012) De novo DNA methylation: a germ cell perspective. Trends in genetics : TIG, 28(1), 33-42. PMID: 22019337  

Smith ZD, Chan MM, Humm KC, Karnik R, Mekhoubad S, Regev A, Eggan K, & Meissner A. (2014) DNA methylation dynamics of the human preimplantation embryo. Nature, 511(7511), 611-5. PMID: 25079558  

Barbaux S, Gascoin-Lachambre G, Buffat C, Monnier P, Mondon F, Tonanny MB, Pinard A, Auer J, Bessières B, Barlier A.... (2012) A genome-wide approach reveals novel imprinted genes expressed in the human placenta. Epigenetics, 7(9), 1079-90. PMID: 22894909  

Hanna CW, Peñaherrera MS, Saadeh H, Andrews S, McFadden DE, Kelsey G, & Robinson WP. (2016) Pervasive polymorphic imprinted methylation in the human placenta. Genome research, 26(6), 756-67. PMID: 26769960  

  • February 21, 2017
  • 09:00 PM
  • 307 views

Redrawing Ratite Relationships

by Jente Ottenburghs in Evolutionary Stories

Scientists have sequenced the DNA of two extinct birds: the moa and the elephantbird. Comparison with their living relatives led to some surprising findings.... Read more »

Maderspacher F. (2017) Evolution: Flight of the Ratites. Current biology : CB, 27(3). PMID: 28171755  

Yonezawa T, Segawa T, Mori H, Campos PF, Hongoh Y, Endo H, Akiyoshi A, Kohno N, Nishida S, Wu J.... (2017) Phylogenomics and Morphology of Extinct Paleognaths Reveal the Origin and Evolution of the Ratites. Current biology : CB, 27(1), 68-77. PMID: 27989673  

  • February 10, 2017
  • 07:19 AM
  • 329 views

BHD in patients undergoing chest CT and characteristics of BHD in Korea.

by Joana Guedes in BHD Research Blog

To date, there have been no prospective studies attempting to diagnose BHD syndrome or literature reviews on BHD in Korea. Park et al. (2017) address this in their new study that aims to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to classify the characteristics of BHD in Korea.... Read more »

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