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  • March 15, 2017
  • 08:30 AM
  • 124 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
  • 131 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
  • 136 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
  • 105 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
  • 109 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
  • 159 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
  • 194 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 »

  • February 8, 2017
  • 05:36 AM
  • 209 views

Sex, alcohol, and structural variants in fission yeast

by Christophe Dessimoz in Open Reading Frame

Our latest study just came out (Jeffares et al., Nature Comm 2017). In it, we carefully catalogued high-confidence structural variants among all known strains of the fission yeast population, and assessed their impact on spore viability, winemaking and other traits. This post gives a summary and the story behind the paper.

Structural variants (SVs) measure genetic variation beyond single nucleotide changes …

Next generation sequencing is enabling the study of genomic diversity on unprec........ Read more »

Jeffares, D., Jolly, C., Hoti, M., Speed, D., Shaw, L., Rallis, C., Balloux, F., Dessimoz, C., Bähler, J., & Sedlazeck, F. (2017) Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast. Nature Communications, 14061. DOI: 10.1038/ncomms14061  

Jeffares, D., Rallis, C., Rieux, A., Speed, D., Převorovský, M., Mourier, T., Marsellach, F., Iqbal, Z., Lau, W., Cheng, T.... (2015) The genomic and phenotypic diversity of Schizosaccharomyces pombe. Nature Genetics, 47(3), 235-241. DOI: 10.1038/ng.3215  

  • January 27, 2017
  • 05:13 AM
  • 445 views

TSC1 expression is affected by VHL alterations and HIF-1α production in clear-cell RCC

by Joana Guedes in BHD Research Blog

VHL genetic alterations do not affect the production of HIF-α in clear-cell renal cell carcinoma (ccRCC). However, their effects on tuberous sclerosis proteins (TSC1/2) and heat shock protein 90 (Hsp90) expression are currently unknown. In a recent study, Damjanovic et al. (2016) evaluated the impact of VHL genetic alterations and HIF-α production on the expression of TSC proteins and Hsp90 in 47 sporadic ccRCCs and corresponding normal tissues.... Read more »

  • January 25, 2017
  • 08:00 AM
  • 208 views

Asthma & Histone Acetylation: an important epigenetic mechanism in allergic diseases

by Daniel Potaczek in EpiBeat

Epigenetic regulation is thought to be one of the most important mechanisms contributing to the development and clinical course of chronic immunological diseases like allergies and asthma. DNA methylation has been extensively studied in this context, which has not been a case of histone modifications such as histone acetylation or methylation.

Early epigenetic studies from our lab conducted in mouse models demonstrated a role for histone acetylation in mediating bacteria-induced protection ag........ Read more »

Harb H, Alashkar Alhamwe B, Garn H, Renz H, & Potaczek DP. (2016) Recent developments in epigenetics of pediatric asthma. Current opinion in pediatrics, 28(6), 754-763. PMID: 27662207  

Harb, H., Amarasekera, M., Ashley, S., Tulic, M., Pfefferle, P., Potaczek, D., Martino, D., Kesper, D., Prescott, S., & Renz, H. (2016) Epigenetic Regulation in Early Childhood: A Miniaturized and Validated Method to Assess Histone Acetylation. International Archives of Allergy and Immunology, 168(3), 173-181. DOI: 10.1159/000442158  

Harb, H., Raedler, D., Ballenberger, N., Böck, A., Kesper, D., Renz, H., & Schaub, B. (2015) Childhood allergic asthma is associated with increased IL-13 and FOXP3 histone acetylation. Journal of Allergy and Clinical Immunology, 136(1), 200-202. DOI: 10.1016/j.jaci.2015.01.027  

Stefanowicz, D., Lee, J., Lee, K., Shaheen, F., Koo, H., Booth, S., Knight, D., & Hackett, T. (2015) Elevated H3K18 acetylation in airway epithelial cells of asthmatic subjects. Respiratory Research, 16(1). DOI: 10.1186/s12931-015-0254-y  

Harb, H., & Renz, H. (2015) Update on epigenetics in allergic disease. Journal of Allergy and Clinical Immunology, 135(1), 15-24. DOI: 10.1016/j.jaci.2014.11.009  

  • January 20, 2017
  • 05:19 AM
  • 237 views

RCC: Updates on Guidelines for Adjuvant Therapy and new drug combination

by Joana Guedes in BHD Research Blog

The European Association of Urology (EAU) Renal Cell Carcinoma (RCC) guidelines panel has recently updated its recommendation on adjuvant therapy with sunitinib in non-metastatic RCC after surgical tumour removal (Bex et al., 2016). These clinical guidelines provide urologists with evidence-based information and recommendations for the management of RCC and the panel includes urological surgeons, oncologists, pathologists, radiologists and patient advocates. Based on the conflicting results of t........ Read more »

  • January 13, 2017
  • 05:11 AM
  • 254 views

Nutrient-dependent FNIP degradation regulates FLCN localization and promotes renal cancer progression

by Joana Guedes in BHD Research Blog

Birt-Hogg-Dubé (BHD) syndrome is a rare disorder caused by mutations in FLCN and associated with increased risk of kidney cancer. It has been shown that FLCN-interacting protein 1 and 2 (FNIP1 and FNIP2) double knockout mice, like the FLCN knockout mice, develop renal carcinoma (Hasumi et al., 2015). However, the molecular mechanisms linking FNIP and FLCN remain unknown. In their new study, Nagashima et al. (2016) show that FNIP2 undergoes proteasome-dependent degradation via β-TRCP ........ Read more »

  • January 11, 2017
  • 08:00 AM
  • 334 views

DNA Methylation in the Placenta: accelerated aging in pregnancy complications

by Tina Bianco-Miotto in EpiBeat

The placenta is a unique organ as it is an extra-embryonic tissue primarily regulated by the fetal genome and shared between mother and fetus. However, it is a transient organ that is only needed throughout pregnancy and gestation and then is discarded after delivery. The essential role of the placenta in pregnancy is unquestionable but, surprisingly, as highlighted by the NIH NICHD Human Placenta Project (https://www.nichd.nih.gov/research/HPP/Pages/default.aspx), it is the human organ we know ........ Read more »

Bianco-Miotto T, Mayne BT, Buckberry S, Breen J, Rodriguez Lopez CM, & Roberts CT. (2016) Recent progress towards understanding the role of DNA methylation in human placental development. Reproduction (Cambridge, England), 152(1). PMID: 27026712  

Ehrlich M, Gama-Sosa MA, Huang LH, Midgett RM, Kuo KC, McCune RA, & Gehrke C. (1982) Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells. Nucleic acids research, 10(8), 2709-21. PMID: 7079182  

Fuke C, Shimabukuro M, Petronis A, Sugimoto J, Oda T, Miura K, Miyazaki T, Ogura C, Okazaki Y, & Jinno Y. (2004) Age related changes in 5-methylcytosine content in human peripheral leukocytes and placentas: an HPLC-based study. Annals of human genetics, 68(Pt 3), 196-204. PMID: 15180700  

Schroeder DI, Blair JD, Lott P, Yu HO, Hong D, Crary F, Ashwood P, Walker C, Korf I, Robinson WP.... (2013) The human placenta methylome. Proceedings of the National Academy of Sciences of the United States of America, 110(15), 6037-42. PMID: 23530188  

Robinson WP, & Price EM. (2015) The human placental methylome. Cold Spring Harbor perspectives in medicine, 5(5). PMID: 25722473  

Marioni RE, Shah S, McRae AF, Chen BH, Colicino E, Harris SE, Gibson J, Henders AK, Redmond P, Cox SR.... (2015) DNA methylation age of blood predicts all-cause mortality in later life. Genome biology, 25. PMID: 25633388  

  • January 9, 2017
  • 04:48 AM
  • 239 views

H255Y and K508R missense mutations in FLCN promote kidney neoplasia

by Joana Guedes in BHD Research Blog

The germline FLCN missense mutations H255Y (Hasumi et al., 2009) and K508R (Toro et al., 2008) have been identified in patients with bilateral multifocal (BMF) kidney tumours and other clinical symptoms of Birt-Hogg-Dube (BHD) syndrome, or with BMF kidney tumours as the only manifestation. Building on their previous work identifying the H255Y mutation in human BHD kidney tumour, Hasumi et al. (2016) investigated whether these mutations have an impact on FLCN function. The authors evaluated the F........ Read more »

  • December 31, 2016
  • 07:13 AM
  • 340 views

Population Differences in Androgens Fail to Support Differential-K Theory

by Scott McGreal in Eye on Psych

A recent paper attempts to test predictions of Differential-K Theory about race differences using data on population differences in androgens.Close examination of this data shows that the predictions fail.... Read more »

Dutton, E., van der Linden, D., & Lynn, R. (2016) Population differences in androgen levels: A test of the Differential K theory. Personality and Individual Differences, 289-295. info:/

  • December 30, 2016
  • 07:05 AM
  • 284 views

Annual review 2016

by Joana Guedes in BHD Research Blog

2016 has been a busy year for BHD research. With the new year approaching, this week’s blog will review the studies we’ve particularly enjoyed writing about and revisit the year’s highlights.... Read more »

Gupta, N., Sunwoo, B., & Kotloff, R. (2016) Birt-Hogg-Dubé Syndrome. Clinics in Chest Medicine, 37(3), 475-486. DOI: 10.1016/j.ccm.2016.04.010  

  • December 23, 2016
  • 06:43 AM
  • 343 views

Establishment of a new BHD Syndrome cell line

by Joana Guedes in BHD Research Blog

Birt-Hogg-Dubé syndrome is caused by mutations in the FLCN gene. The FLCN protein acts as a tumour suppressor and BHD patients have a high risk of developing renal cell carcinoma (RCC). The mechanisms of tumour formation in BHD have been investigated using mouse models and human RCC tissues. However, in vitro signalling studies of human renal cells with mutant FLCN are still scarce. In a recent study, Furuya et al. (2016) established a new cell line from a BHD patient’s chromophobe ........ Read more »

  • December 16, 2016
  • 05:25 AM
  • 328 views

Patient participation in clinical trials

by Joana Guedes in BHD Research Blog

Clinical trials are crucial to help doctors and scientists understand how to safely treat a particular condition, to evaluate new treatments and to test drug safety and efficacy. They have an important role in every step of managing a condition with different clinical trials helping with prevention, diagnosis, treatments and follow-up support.... Read more »

  • December 14, 2016
  • 07:43 AM
  • 302 views

The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons

by Christian de Guttry in genome ecology evolution etc

The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons About 450 mya bony vertebrates radiated into Lobe-finned fish, from which tetrapods appeared later, and Ray-finned fish, which include Teleost (Fig.1). Nowadays they make up to 96 percent of … Continue reading →... Read more »

Braasch I, Gehrke AR, Smith JJ, Kawasaki K, Manousaki T, Pasquier J, Amores A, Desvignes T, Batzel P, Catchen J.... (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature genetics, 48(4), 427-37. PMID: 26950095  

  • December 8, 2016
  • 03:14 PM
  • 196 views

ExAC presents a catalogue of human protein-coding genetic variation

by Kamil S. Jaron in genome ecology evolution etc

Exploration of variability of human genomes represents a key step in the holy grail of human genetics – to link genotypes with phenotypes, it also provides insights to human evolution and history. For this purpose Exome Aggregation Consortium (ExAC) have … Continue reading →... Read more »

Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB.... (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536(7616), 285-91. PMID: 27535533  

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