1,707 results match your criteria Bloom Syndrome Congenital Telangiectatic Erythema
J Crit Care 2018 Aug;46:141-148
Department of Pharmaceutical Services, Vanderbilt University Medical Center, Nashville, TN, United States.
Purpose: To describe the design and initial implementation of an Intensive Care Unit Recovery Center (ICU-RC) in the United States.
Materials And Methods: A prospective, observational feasibility study was undertaken at an academic hospital between July 2012 and December 2015. Clinical criteria were used to develop the ICU-RC, identify patients at high risk for post intensive care syndrome (PICS), and offer them post-ICU care. Read More
Phytochemistry 2018 Jun 12;153:120-128. Epub 2018 Jun 12.
School of Life Sciences, University of KwaZulu-Natal, Pietermaritzburg, South Africa.
The plants of the enigmatic genus Rafflesia are well known for their gigantic flowers and their floral features such as pungent floral scent and vivid dark color, which mimics the food/brood sites of carrion. However, information on the pollination biology of this plant group remains limited and mostly anecdotal. In the present paper, we studied the floral volatiles of R. Read More
J Child Neurol 2018 Jan 1:883073818776157. Epub 2018 Jan 1.
1 Department of Neurology, Children's National Health System, Washington, DC, USA.
Leukodystrophies and genetic leukoencephalopathies are a heterogeneous group of heritable disorders that affect the glial-axonal unit. As more patients with unsolved leukodystrophies and genetic leukoencephalopathies undergo next generation sequencing, causative mutations in genes leading to central hypomyelination are being identified. Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelination with early respiratory failure. Read More
Indian J Dermatol Venereol Leprol 2018 May 22. Epub 2018 May 22.
Department of Genetics, Hospital Universitario "Dr. José Eleuterio González" UANL, Monterrey, Nuevo León, Mexico.
Zhonghua Er Ke Za Zhi 2018 May;56(5):373-376
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai 200127, China.
To expand the knowledge of the clinical and molecular characteristics of the children with Bloom syndrome. Clinical data of two siblings with classic Bloom syndrome of Shanghai Children's Medical Center from January 2009 to June 2017 were obtained and analyzed. The DNA of peripheral blood was collected from two Bloom syndrome siblings and their parents during 2015. Read More
Mech Ageing Dev 2018 Jul 9;173:80-83. Epub 2018 May 9.
Department of Clinical Cell Biology and Medicine, Chiba University, Graduate School of Medicine, Chiba, Japan.
Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome. Read More
Adv Anat Pathol 2018 Jul;25(4):217-222
Department of Pathology, Memorial Sloan Kettering Cancer Center, NewYork, NY.
Osteosarcoma (OS) is the most common primary bone tumor affecting predominantly adolescents and young adults. It accounts for about 5% of all childhood cancers. Although the majority of OSs are sporadic, a small percentage occur as a component of hereditary cancer syndromes. Read More
Cold Spring Harb Mol Case Stud 2018 Apr 2;4(2). Epub 2018 Apr 2.
2017 Pediatric Cancer Nanocourse, Children's Cancer Therapy Development Institute, Beaverton, Oregon 97005, USA.
Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age. Cancer is the leading cause of death for persons with BS, and its early onset results in a reported median lifespan of <30 years. With fewer than 300 documented cases since BS was first described in 1954, its rarity has challenged progress in advancing both the care of and the cure for persons with BS. Read More
J Nutr Biochem 2018 Jun 15;56:142-151. Epub 2018 Feb 15.
Rutgers, The State University of New Jersey, Department of Food Science, Institute for Food Nutrition and Health, Center for Digestive Health, 61 Dudley Road, New Brunswick, NJ 08901, USA. Electronic address:
We previously showed that C57BL/6J mice fed high-fat diet (HFD) supplemented with 1% grape polyphenols (GP) for 12 weeks developed a bloom of Akkermansia muciniphila with attenuated metabolic syndrome symptoms. Here we investigated early timing of GP-induced effects and the responsible class of grape polyphenols. Mice were fed HFD, low-fat diet (LFD) or formulations supplemented with GP (HFD-GP, LFD-GP) for 14 days. Read More
Methods Mol Biol 2018 ;1769:231-251
Department of Human Genetics, University of Würzburg, Würzburg, Germany.
The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints, associated copy number variations, order and orientation of segments, and flanking sequences at joining points. Results from patients with the autosomal dominant cancer susceptibility disorder Li-Fraumeni syndrome implicated somatic TP53 mutations in chromothripsis. Read More
Proc Natl Acad Sci U S A 2018 Apr 21;115(14):3680-3685. Epub 2018 Mar 21.
Friedrich Miescher Laboratory of the Max Planck Society, 72076 Tübingen, Germany;
Discovering the genetic changes underlying species differences is a central goal in evolutionary genetics. However, hybrid crosses between species in mammals often suffer from hybrid sterility, greatly complicating genetic mapping of trait variation across species. Here, we describe a simple, robust, and transgene-free technique to generate "in vitro crosses" in hybrid mouse embryonic stem (ES) cells by inducing random mitotic cross-overs with the drug ML216, which inhibits the DNA helicase Bloom syndrome (BLM). Read More
Nat Commun 2018 Mar 9;9(1):1016. Epub 2018 Mar 9.
National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, 110067, India.
Mutations in BLM in Bloom Syndrome patients predispose them to multiple types of cancers. Here we report that BLM is recruited in a biphasic manner to annotated DSBs. BLM recruitment is dependent on the presence of NBS1, MRE11 and ATM. Read More
Ann Pharmacother 2018 Feb 1:1060028018759343. Epub 2018 Feb 1.
1 Vanderbilt University Medical Center, Nashville, TN, USA.
Background: Many patients experience complications following critical illness; these are now widely referred to as post-intensive care syndrome (PICS). An interprofessional intensive care unit (ICU) recovery center (ICU-RC), also known as a PICS clinic, is one potential approach to promoting patient and family recovery following critical illness.
Objectives: To describe the role of an ICU-RC critical care pharmacist in identifying and treating medication-related problems among ICU survivors. Read More
Biomacromolecules 2018 Mar 28;19(3):803-815. Epub 2018 Feb 28.
Institute of Nano Science and Technology , Mohali , Punjab 160062 , India.
Synthetic lethality is a molecular-targeted therapy for selective killing of cancer cells. We exploited a lethal interaction between superoxide dismutase 1 inhibition and Bloom syndrome gene product (BLM) defect for the treatment of colorectal cancer (CRC) cells (HCT 116) with a customized lung cancer screen-1-loaded nanocarrier (LCS-1-NC). The drug LCS-1 has poor aqueous solubility. Read More
FEBS Lett 2018 Feb 15;592(4):547-558. Epub 2018 Feb 15.
Department of Chemistry, Gwangju Institute of Science and Technology, Gwangju, Korea.
Bloom syndrome protein (BLM) is one of five human RecQ helicases which maintain genomic stability. Interaction of BLM with replication protein A (RPA) stimulates the DNA unwinding ability of BLM. The interaction is expected to be crucial in the DNA damage response. Read More
Oncol Res 2018 Jan 31. Epub 2018 Jan 31.
Department of Gastrointestinal Surgery, Linyi People's Hospital, Linyi 276000, Shandong, China.
miR-522-3p is known to degrade bloom syndrome protein (BLM) and enhance expression of other proto-oncogenes leading totumorigenesis. This study aimed to investigate the molecular mechanisms of miR-522-3p in human colorectal cancer (CRC) cells. Expressions of miR-522-3p in CRC and adjacent tissues, as well as in normal human colon epithelial cell line (FHC) and five CRC cell lines were detected. Read More
Nat Commun 2018 01 18;9(1):271. Epub 2018 Jan 18.
European Research Institute for the Biology of Ageing, University of Groningen, University Medical Center Groningen, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands.
Bloom syndrome is a cancer predisposition disorder caused by mutations in the BLM helicase gene. Cells from persons with Bloom syndrome exhibit striking genomic instability characterized by excessive sister chromatid exchange events (SCEs). We applied single-cell DNA template strand sequencing (Strand-seq) to map the genomic locations of SCEs. Read More
Nat Plants 2018 Jan 1;4(1):30-35. Epub 2018 Jan 1.
Department of Agronomy, Purdue University, West Lafayette, IN, USA.
Many leguminous species have adapted their seed coat with a layer of powdery bloom that contains hazardous allergens and makes the seeds less visible, offering duel protection against potential predators . Nevertheless, a shiny seed surface without bloom is desirable for human consumption and health, and is targeted for selection under domestication. Here we show that seed coat bloom in wild soybeans is mainly controlled by Bloom1 (B1), which encodes a transmembrane transporter-like protein for biosynthesis of the bloom in pod endocarp. Read More
Cell Cycle 2018 16;17(4):401-402. Epub 2018 Jan 16.
a Department of Molecular Biology and Biochemistry , Rutgers, The State University of New Jersey , Piscataway , NJ 08854 , USA.
Diabetologia 2018 Apr 21;61(4):919-931. Epub 2017 Dec 21.
Department of Medicine, Faculty of Medicine, Cardiology Axis of the Québec Heart and Lung Institute, Laval University, Bureau Y4340, Québec City, QC, G1V 4G5, Canada.
Aims/hypothesis: There is growing evidence that fruit polyphenols exert beneficial effects on the metabolic syndrome, but the underlying mechanisms remain poorly understood. In the present study, we aimed to analyse the effects of polyphenolic extracts from five types of Arctic berries in a model of diet-induced obesity.
Methods: Male C57BL/6 J mice were fed a high-fat/high-sucrose (HFHS) diet and orally treated with extracts of bog blueberry (BBE), cloudberry (CLE), crowberry (CRE), alpine bearberry (ABE), lingonberry (LGE) or vehicle (HFHS) for 8 weeks. Read More
Viruses 2017 12 1;9(12). Epub 2017 Dec 1.
Department of Molecular Genetics and Microbiology, Center for Virology, Duke University School of Medicine, Durham, NC 27710, USA.
Epstein-Barr virus (EBV) is an oncogenic herpesvirus that is ubiquitous in the human population. Early after EBV infection in vitro, primary human B cells undergo a transient period of hyper-proliferation, which results in replicative stress and DNA damage, activation of the DNA damage response (DDR) pathway and, ultimately, senescence. In this study, we investigated DDR-mediated senescence in early arrested EBV-infected B cells and characterized the establishment of persistent DNA damage foci. Read More
Cancer Lett 2018 01 7;413:1-10. Epub 2017 Nov 7.
Radiation Emergency Assistance Center and Training Site, Oak Ridge Associated Universities, Oak Ridge Institute for Science and Education, Oak Ridge, TN 37830, USA. Electronic address:
Human RecQ helicases that share homology with E. coli RecQ helicase play critical roles in diverse biological activities such as DNA replication, transcription, recombination and repair. Mutations in three of the five human RecQ helicases (RecQ1, WRN, BLM, RecQL4 and RecQ5) result in autosomal recessive syndromes characterized by accelerated aging symptoms and cancer incidence. Read More
Eur J Med Genet 2018 Feb 19;61(2):94-97. Epub 2017 Oct 19.
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:
Bloom syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms, and "typical" erythematous sun-sensitive skin lesions of the face. This facial rash has a butterfly-shaped distribution around the nose and is usually observed for the first time during the early years of life. Though reported as being a main feature of Bloom syndrome, there seems to be phenotypic variability regarding this facial skin rash among patients. Read More
Mol Microbiol 2018 Jan 9;107(1):81-93. Epub 2017 Nov 9.
Department of Microbiology & Immunology, W. R. Hearst Microbiology Research Center Weill Medical College of Cornell University, New York, NY, USA.
Homologous recombination and repair factors are known to promote both telomere replication and recombination-based telomere extension. Herein, we address the diverse contributions of several recombination/repair proteins to telomere maintenance in Ustilago maydis, a fungus that bears strong resemblance to mammals with respect to telomere regulation and recombination mechanisms. In telomerase-positive U. Read More
J Cell Biol 2017 12 17;216(12):3991-4005. Epub 2017 Oct 17.
Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, Canada
Sgs1, the orthologue of human Bloom's syndrome helicase BLM, is a yeast DNA helicase functioning in DNA replication and repair. We show that loss increases R-loop accumulation and sensitizes cells to transcription-replication collisions. Yeast lacking accumulate R-loops and γ-H2A at sites of Sgs1 binding, replication pausing regions, and long genes. Read More
Pediatr Rheumatol Online J 2017 Oct 17;15(1):76. Epub 2017 Oct 17.
Department of Pediatrics, University of Utah, Salt Lake City, UT, 84113, USA.
Background: H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations in SLC29A3, a gene located on chromosome 10q23, which encodes the human equilibrative transporter 3 (hENT3). Less than 100 patients with H syndrome have been described in the literature, with the majority being of Arab descent, and only a few from North America. Read More
Nature 2017 10;550(7675):174-177
Cell Rep 2017 Oct;21(2):324-332
Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address:
DNA double-strand break repair by homologous recombination entails the resection of DNA ends to reveal ssDNA tails, which are used to invade a homologous DNA template. CtIP and its yeast ortholog Sae2 regulate the nuclease activity of MRE11 in the initial stage of resection. Deletion of CtIP in the mouse or SAE2 in yeast engenders a more severe phenotype than MRE11 nuclease inactivation, indicative of a broader role of CtIP/Sae2. Read More
BMJ Case Rep 2017 Oct 10;2017. Epub 2017 Oct 10.
Department of Cardiology, Naval Medical Center Portsmouth, Portsmouth, Virginia, USA.
A previously healthy 48-year-old active duty man, who had been treated for an elbow abscess 3 weeks earlier, presented to an emergency department in Bahrain with tachycardia, pericardial friction rub and jugular venous distention. Cardiac tamponade was confirmed on transthoracic echocardiogram and he was taken for emergent pericardiocentesis. Pericardial fluid cultures grew community-acquired methicillin-resistant Despite ongoing treatment with intravenous vancomycin, he developed a recurrent fibrinous pericardial effusion and constrictive pericarditis requiring pericardiectomy. Read More
Arch Biochem Biophys 2017 11 7;634:57-68. Epub 2017 Oct 7.
College of Animal Science, Guizhou University, Guiyang 550025, China.
Numerous studies have shown that nuclear localization of BLM protein, a member of the RecQ helicases, mediated by nuclear localization signal (NLS) is critical for DNA recombination, replication and transcription, but the mechanism by which BLM protein is imported into the nucleus remains unknown. In this study, the nuclear import pathway for BLM was investigated. We found that nuclear import of BLM was inhibited by two dominant-negative mutants of importin β1 and NTF2/E42K, which lacks the ability to bind Ran and RanGDP, respectively, but was not inhibited by the Ran/Q69L, which is deficient in GTP hydrolysis. Read More
Structure 2017 Oct 3;25(10):1471-1472. Epub 2017 Oct 3.
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:
Tandem BRCT domains are phophoprotein binding modules. In this issue of Structure, Sun et al. (2017) show that a single BRCT domain in TopBP1 binds tightly and specifically to phosphorylated Bloom syndrome helicase (BLM). Read More
Am J Med Genet A 2017 Nov 28;173(11):3075-3081. Epub 2017 Sep 28.
Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.
We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in DDX11. After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel variants-c.1523T>G, predicting (p. Read More
Nat Commun 2017 09 25;8(1):693. Epub 2017 Sep 25.
Institut Curie, PSL Research University, UMR 3348, Orsay, 91405, France.
Cells from Bloom's syndrome patients display genome instability due to a defective BLM and the downregulation of cytidine deaminase. Here, we use a genome-wide RNAi-synthetic lethal screen and transcriptomic profiling to identify genes enabling BLM-deficient and/or cytidine deaminase-deficient cells to tolerate constitutive DNA damage and replication stress. We found a synthetic lethal interaction between cytidine deaminase and microtubule-associated protein Tau deficiencies. Read More
Oncol Lett 2017 Oct 2;14(4):4206-4212. Epub 2017 Aug 2.
Institute of Uro-Nephrology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing 100020, P.R. China.
Prostate cancer (PCa) is a common malignant tumor and the second leading cause of morbidity and mortality in men worldwide. Considering the prevalence and effects of PCa in males, an understanding of the molecular mechanisms underlying PCa tumorigenesis are essential and may provide novel therapeutic strategies for treating PCa. Bloom syndrome protein (BLM) is a member of the RecQ helicase family. Read More
Structure 2017 10 14;25(10):1582-1588.e3. Epub 2017 Sep 14.
Department of Biochemistry, University of Alberta, Edmonton, AB T6G 2H7, Canada. Electronic address:
Topoisomerase IIβ binding protein 1 (TopBP1) is a critical protein-protein interaction hub in DNA replication checkpoint control. It was proposed that TopBP1 BRCT5 interacts with Bloom syndrome helicase (BLM) to regulate genome stability through either phospho-Ser304 or phospho-Ser338 of BLM. Here we show that TopBP1 BRCT5 specifically interacts with the BLM region surrounding pSer304, not pSer338. Read More
J Cell Biol 2017 11 14;216(11):3521-3534. Epub 2017 Sep 14.
Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ
The gene product, BLM, is a RECQ helicase that is involved in DNA replication and repair of DNA double-strand breaks by the homologous recombination (HR) pathway. During HR, BLM has both pro- and anti-recombinogenic activities, either of which may contribute to maintenance of genomic integrity. We find that in cells expressing a mutant version of BRCA1, an essential HR factor, ablation of rescues genomic integrity and cell survival in the presence of DNA double-strand breaks. Read More
EMBO J 2017 10 6;36(19):2907-2919. Epub 2017 Sep 6.
Telomere Length Regulation Unit, Children's Medical Research Institute, University of Sydney, Westmead, NSW, Australia
Alternative lengthening of telomeres (ALT) is a telomere lengthening pathway that predominates in aggressive tumors of mesenchymal origin; however, the underlying mechanism of telomere synthesis is not fully understood. Here, we show that the BLM-TOP3A-RMI (BTR) dissolvase complex is required for ALT-mediated telomere synthesis. We propose that recombination intermediates formed during strand invasion are processed by the BTR complex, initiating rapid and extensive POLD3-dependent telomere synthesis followed by dissolution, with no overall exchange of telomeric DNA. Read More
Hum Reprod 2017 Sep;32(9):1915-1924
Department of Investigative Medicine, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, UK.
Study Question: Can increasing the duration of LH-exposure with a second dose of kisspeptin-54 improve oocyte maturation in women at high risk of ovarian hyperstimulation syndrome (OHSS)?
Summary Answer: A second dose of kisspeptin-54 at 10 h following the first improves oocyte yield in women at high risk of OHSS.
What Is Known Already: Kisspeptin acts at the hypothalamus to stimulate the release of an endogenous pool of GnRH from the hypothalamus. We have previously reported that a single dose of kisspeptin-54 results in an LH-surge of ~12-14 h duration, which safely triggers oocyte maturation in women at high risk of OHSS. Read More
Curr Opin Nephrol Hypertens 2017 11;26(6):501-508
aDepartment of Medicine, Division of Nephrology, University of Washington, Washington bDepartment of Medicine, Renal Division, University of Pennsylvania cDepartment of Medicine, Penn Transplant Institute, Pennsylvania, USA.
Purpose Of Review: With improving short-term kidney transplant outcomes, recurrent glomerular disease is being increasingly recognized as an important cause of chronic allograft failure. Further understanding of the risks and pathogenesis of recurrent glomerular disease enable informed transplant decisions, along with the development of preventive and treatment strategies.
Recent Findings: Multiple observational studies have highlighted differences in rates and outcomes for various recurrent glomerular diseases, although these rates have not markedly improved over the last decade. Read More
Bioessays 2017 Sep 9;39(9). Epub 2017 Aug 9.
Curriculum in Genetics and Molecular Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
The functions of the Bloom syndrome helicase (BLM) and its orthologs are well characterized in mitotic DNA damage repair, but their roles within the context of meiotic recombination are less clear. In meiotic recombination, multiple repair pathways are used to repair meiotic DSBs, and current studies suggest that BLM may regulate the use of these pathways. Based on literature from Saccharomyces cerevisiae, Arabidopsis thaliana, Mus musculus, Drosophila melanogaster, and Caenorhabditis elegans, we present a unified model for a critical meiotic role of BLM and its orthologs. Read More
Mol Plant Pathol 2018 Apr 24;19(4):786-800. Epub 2017 Oct 24.
Department of Plant Pathology and Microbiology, University of California, Riverside, CA 92521, USA.
Xylella fastidiosa is a Gram-negative bacterial plant pathogen with an extremely wide host range. This species has recently been resolved into subspecies that correlate with host specificity. This review focuses on the status of X. Read More
Int J Mol Sci 2017 Jul 18;18(7). Epub 2017 Jul 18.
Department of Molecular Genetics, Faculty of Biology and Environmental Protection, University of Lodz, 90-236 Lodz, Poland.
The human DNA2 (DNA replication helicase/nuclease 2) protein is expressed in both the nucleus and mitochondria, where it displays ATPase-dependent nuclease and helicase activities. DNA2 plays an important role in the removing of long flaps in DNA replication and long-patch base excision repair (LP-BER), interacting with the replication protein A (RPA) and the flap endonuclease 1 (FEN1). DNA2 can promote the restart of arrested replication fork along with Werner syndrome ATP-dependent helicase (WRN) and Bloom syndrome protein (BLM). Read More
Methods Mol Biol 2017 ;1622:111-129
Department of Biochemistry, Molecular Biology, and Cell Biology, Northwestern University, Hogan 2-100, 2205 Tech Drive, Evanston, IL, 60208, USA.
Several key components of the RNA interference (RNAi) pathway were identified in genetic screens performed in non-mammalian model organisms. To identify components of the mammalian RNAi pathway, we developed a recessive genetic screen in mouse embryonic stem (ES) cells. Recessive genetic screens are feasible in ES cells that are Bloom-syndrome protein deficient (Blm-deficient). Read More
Proc Natl Acad Sci U S A 2017 07 3;114(29):E5940-E5949. Epub 2017 Jul 3.
Department of Biomedical Science, College of Osteopathic Medicine, New York Institute of Technology, Old Westbury, NY 11568;
In the mammalian genome, certain genomic loci/regions pose greater challenges to the DNA replication machinery (i.e., the replisome) than others. Read More
Annu Rev Biochem 2017 06;86:461-484
Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544; email: ,
Self-catalyzed DNA depurination is a sequence-specific physiological mechanism mediated by spontaneous extrusion of a stem-loop catalytic intermediate. Hydrolysis of the 5'G residue of the 5'GA/TGG loop and of the first 5'A residue of the 5'GAGA loop, together with particular first stem base pairs, specifies their hydrolysis without involving protein, cofactor, or cation. As such, this mechanism is the only known DNA catalytic activity exploited by nature. Read More
Semin Hematol 2017 04 7;54(2):115-122. Epub 2017 Apr 7.
Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN. Electronic address:
The majority of myeloid malignancies are caused by sporadic somatic events rather than cancer predisposition. Nonetheless, the identification of hereditary cancer predisposition syndromes is critical when caring for patients with myeloid malignancies since detection may direct decisions related to cancer treatment and surveillance. A positive genetic test result also has important implications for other family members who can use this information to undergo their own testing to determine their cancer risk. Read More
Mol Syndromol 2017 Mar 17;8(2):103-106. Epub 2017 Jan 17.
St. Petersburg State Pediatric Medical University, Kazan, Russia.
Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent c. Read More
Clin Cancer Res 2017 Jun;23(11):e23-e31
National Cancer Institute, Rockville, Maryland.
DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Read More