The depurination of DNA as the first step of the Epitect Bisulfite kit (cat. no. 59104) workflow is a chemical reaction, theres no problem at all using the DNA directly after enzymatic reaction. ...
Reaktivität: Human, Affe, Maus and more. 51 verschiedene PTCHD3 Antikörper vergleichen. Alle direkt auf antikörper-online bestellbar!
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD.
TY - JOUR. T1 - Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD). AU - Mills, K. A.. AU - Buetow, K. H.. AU - Xu, Y.. AU - Ritty, T. M.. AU - Mathews, K. D.. AU - Bodrug, S. E.. AU - Wijmenga, C.. AU - Balazs, I.. AU - Murray, J. C.. PY - 1992/1/1. Y1 - 1992/1/1. N2 - We have used a combination of classical RFLPs and PCR-based polymorphisms including CA repeats and single-strand conformation polymorphisms to generate a fine-structure genetic map of the distal long arm of chromosome 4q. This map is now genetically linked to the pre-existing anchor map of 4pter-4q31 and generates, for the first time, a complete linkage map of this chromosome. The map consists of 32 anchor loci placed with odds of greater than 1,000:1. The high-resolution map in the cytogenetic region surrounding 4q35 provides the order 4cen-D4S171-F11-D4S187-D4S163-D4S139-4qter. When we used somatic cell hybrids from a t(X;4)(p21;q35) translocation, ...
Facioscapulohumeral muscular dystrophy (FSHD) affects over 25,000 people in the USA alone, making it one of the most prevalent genetic diseases. The genetic mutation underlying FSHD is usually a reduction in the copy number of a macrosatellite repeat on chromosome 4 referred to as D4Z4 (van Deutekom et al., 1993; Wijmenga et al., 1992). This repeat is GC-rich, highly methylated and normally subjected to repeat-induced silencing, which is disrupted in an allele-specific manner by contractions to 10 or fewer copies (van Overveld et al., 2003) or is disrupted on all D4Z4 repeats owing to mutation in the chromatin protein SMCHD1 (de Greef et al., 2009; Hartweck et al., 2013; Lemmers et al., 2012). When silencing at D4Z4 breaks down, an RNA transcript encoding the DUX4 protein (Gabriëls et al., 1999) is expressed. The presence of a poly(A) signal downstream of the D4Z4 repeats on chromosome 4 (chr4) (Dixit et al., 2007) leads to DUX4 expression and explains why disease is associated only with ...
Facioscapulohumeral muscular dystrophy (FSHD) isan enigmatic inherited disorder, while the disease locus for this condition was mapped some 17 years ago and the mutations associated with the disease are known, the exact identity of the FSHD gene remains elusive
Part 1 (dose escalation, open-label) Part 1 will consist of up to 6 cohorts (A to F) of patients and will evaluate multiple ascending dose levels of ACE-083 in either the tibialis anterior (TA) or biceps brachii (BB) muscle. Patients in each cohort will be enrolled in a 4-week screening period before beginning treatment. A Safety Review Team (SRT) will meet to review data for each cohort when at least 4 patients within a cohort have completed their Day 43 visit prior to dose escalation.. Part 2 (randomized, double-blind, placebo-controlled) Prior to the initiation of Part 2, a review of safety and efficacy data from Part 1 will be conducted to determine whether cohorts for one or both muscles will be pursued in Part 2, as well as the recommended dose level for each muscle. A total of up to 40 new patients (20 patients per muscle) may be enrolled and randomized (3:2) to receive either ACE-083 (n=12) or placebo (n=8) unilaterally or bilaterally (if both sides are affected per inclusion criteria) ...
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The study aim was to investigate the impacts of the expressions of tumor suppressor gene phosphatase and tensin homolog deleted on chromosome ten (PTE..
TY - JOUR. T1 - Facioscapulohumeral muscular dystrophy region gene 1 Is a dynamic RNA-associated and actin-bundling protein. AU - Sun, Chia Yun Jessica. AU - Van Koningsbruggen, Silvana. AU - Long, Steven W.. AU - Straasheijm, Kirsten. AU - Klooster, Rinse. AU - Jones, Takako I.. AU - Bellini, Michel. AU - Levesque, Lyne. AU - Brieher, William M.. AU - Van Der Maarel, Silvère M.. AU - Jones, Peter L.. PY - 2011/8/12. Y1 - 2011/8/12. N2 - FSHD region gene 1 (FRG1) is a dynamic nuclear and cytoplasmic protein that, in skeletal muscle, shows additional localization to the sarcomere. Maintaining appropriate levels of FRG1 protein is critical for muscular and vascular development in vertebrates; however, its precise molecular function is unknown. This study investigates the molecular functions of human FRG1, along with mouse FRG1 and Xenopus frg1, using molecular, biochemical, and cellular-biological approaches, to provide further insight into its roles in vertebrate development. The nuclear ...
Hroniska obstruktīva plaušu slimība (HOPS, latīņu: morbus obturativus pulmonum chronicum) ir viens no obstruktīvo plaušu slimību tipiem, raksturojas ar gaisa plūsmas traucējumiem. Parasti laika gaitā stāvoklis kļūst smagāks. Galvenie simptomi ir aizdusa, klepus, krēpu izdalīšanās.[1] Hroniska obstruktīva plaušu slimība ir gandrīz visiem cilvēkiem, kas slimo ar hronisko bronhītu.[2] Visbiežākais slimības ierosinātājs ir tabakas smēķēšana. Mazāk ietekmē gaisa piesārņojums un ģenētika.[3] Ilgtermiņa iedarbība uz kairinātājiem izraisa iekaisumu plaušās, kura rezultātā mazie elpceļi sašaurinās un notiek emfizēma (plaušu parenhīmas destrukcija).[4] Atklāt slimību var pēc vājas gaisa plūsmas plaušu testā.[5] Atšķirībā no astmas, gaisa plūsmu nevar uzlabot ar medikamentiem. Hronisku obstruktīvu plaušu slimību var novērst, samazinot zināmo cēloņu ietekmi. Var samazināt smēķēšanas biežumu, uzlabot iekštelpu un āra gaisa ...
PLAU is a protease that converts plasminogen to plasmin. It appears to affect murine ageing: its overexpression in the brain diminishes food consumption and extends longevity probably through a mechanism similar to caloric restriction [13]. It is unclear at present whether PLAU affects human ageing, despite some evidence linking PLAU to age-related neurological diseases [374]. ...
Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation ...
Derepression of in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here we report on the use of ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
109733592(LOC109733592) 109734721(LOC109734721) 109735060(LOC109735060) 109735370(LOC109735370) 109736317(LOC109736317) 109738587(LOC109738587) 109739375(LOC109739375) 109739951(LOC109739951) 109752468(LOC109752468) 109753193(LOC109753193) 109754271(LOC109754271) 109758706(LOC109758706) 109759398(LOC109759398) 109762420(LOC109762420) 109762466(LOC109762466) 109763463(LOC109763463) 109764514(LOC109764514) 109765259(LOC109765259) 109765833(LOC109765833) 109771924(LOC109771924) 109773752(LOC109773752) 109774461(LOC109774461) 109774463(LOC109774463) 109775363(LOC109775363) 109775375(LOC109775375) 109775629(LOC109775629) 109775824(LOC109775824) 109784012(LOC109784012) 109785922 ...
A recent finding by medical geneticists sheds new light on how facioscapulohumeral muscular dystrophy develops and how it might be treated. More commonly known as FSHD, the devastating disease affects both men and women. FSHD is usually an inherited genetic disorder, yet sometimes appears spontaneously via new mutations in individuals with no family history of the condition. "People with the condition experience progressive muscle weakness and about 1 in 5 require wheelchair assistance by age 40," said Dr. Daniel G. Miller, University of Washington (UW) associate professor of pediatrics in the Division of Genetic Medicine. Dr. Miller and his worldwide collaborators study the molecular events leading to symptoms of FSHD in the hopes of designing therapies to prevent the emergence of symptoms or reduce their severity. In the November 11, 2012 online issue of Nature Genetics, Dr. Miller and Dr. Silvere M. van der Maarel of Leiden University in The Netherlands, along with an international team, ...
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers ...
1: Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007; 81(5):884-94.. 2: Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.Chromosoma 2007; 116(2):107-16.. 3: Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der MaarelSM. Somatic mosaicism in FSHD often goes undetected.Ann Neurol 2004 Jun; 55(6):845-50.. 4: Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 2003 Jul 22; 61(2):178-83.. 5: Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Facioscapulohumeral muscular dystrophy is uniquely associated ...
Cowden disease, also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that can be associated with a mutation in the PTEN gene on arm 10q, as reported by Liaw et al. Originally described in 1963 by Lloyd and Dennis, Cowden disease (multiple hamartoma syndrome) was named after t...
Epigenetic Gene expression and Chromatin dynamics in Facioscapulohumeral Muscular Dystrophy (FSHD). Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating genetic condition manifest by weakness of facial and upper extremity musculature that presents in the 2nd decade of life. The causative genetic event is a contraction of a subtelomeric array of repeated 3.3 kb sequence units residing on one of two common alleles of chromosome 4. How this array contraction translates into cellular differences that result in weakness of select muscle groups is a fascinating question that is not presently understood. Each D4Z4 repeat unit contains a large open reading frame that encodes a putative double homeodomain containing protein named DUX4 making aberrant expression, or expression of aberrant DUX4 isoforms an attractive mechanism for FSHD pathology. Our long term objectives are to understand how muscle strength is compromised as a result of molecular events initiated by these contractions. With ...
Methylation analysis of the phosphates and tensin homologue on chromosome 10 gene PTEN in multiple myeloma. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Guoping Feng and Michael Halassa create mice with global or thalamic-specific loss of the ASD-risk gene PTCHD1 to show specific roles for thalamic PTCHD1 in…
... is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
... is a rare type of kidney cancer that develops in cells that are involved in the production of urine. Cancers form when a change (mutation) in DNA causes certain cells to grow out of control, sometimes forming a lump or a tumor. Some of these cancerous cells can break off and spread to other parts of the body where they will continue to grow (metastasis). Chromophobe renal cell carcinoma usually occurs in adults between the ages of 40 and 60, although it can appear in all age groups. This type of carcinoma is associated with Birt-Hogg-Dubé syndrome, an inherited disorder caused by a mutation in the FLCN gene. The FLCN gene is involved in regulating cell growth, and a mutation in this gene can cause cells to grow out of control. This situation places affected individuals at higher risk of developing chromophobe renal cell carcinoma as well as noncancerous growths in the kidneys, lungs, and hair follicles. Common symptoms include the presence of blood in the urine, ...
TY - JOUR. T1 - Chromophobe renal cell carcinoma with sarcomatoid differentiation. AU - Lauer, Scott R.. AU - Zhou, Ming. AU - Master, Viraj A.. AU - Osunkoya, Adeboye O.. PY - 2013/4/1. Y1 - 2013/4/1. N2 - OBJECTIVE: To investigate the clinicopathologic features of chromophobe renal cell carcinoma with sarcomatoid differentiation. STUDY DESIGN: A search was made through the surgical pathology and expert consult files of two major academic institutions from 2003 to 2011 for cases of chromophobe renal cell carcinoma with sarcomatoid differentiation. RESULTS: Fourteen patients were identified. The patients included 9 males (64%) and 5 females (36%). The mean patient age was 60.4 years (range, 40-82 years). There was a left-sided predominance: left (9 patients) and right (5 patients). The mean tumor size was 14.6 cm (range, 9.5-28.0 cm), and the mean percentage sarcomatoid differentiation was 67% (range, 30-99%). All tumors exhibited moderate to extensive areas of necrosis. The nonsarcomatoid ...
Background: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q. A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (ANT1), FSHD-related gene 1 (FRG1), FRG2 and DUX4c, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (DUX4) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure. Furthermore, a mouse model overexpressing FRG1 has been generated, displaying skeletal muscle defects. Results: In the context of myogenic differentiation, we compared the chromatin structure and tridimensional interaction of the D4Z4 array and FRG1 gene promoter, and FRG1 expression, in control and FSHD cells. The FRG1 gene was prematurely expressed during FSHD myoblast differentiation, thus suggesting that the number of D4Z4 repeats in ...
An NIH funded, Senatory Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (MDCRC) has recently been established entitled Biomarkers for therapy of FSHD (facioscapulohumeral muscular dystrophy). This multi-institutional MDCRC will be directed by Charles Emerson, Ph.D. at Boston Biomedical Research Institute. The PI (in addition to having a project that is not being reviewed by the IRB at this time) is a co-director of the Centers Cell core. This core will be a national repository of muscle tissue, cells, and DNA for studies in FSHD.
Health,Boston MA (PRWEB) January 24 2013 Facioscapulohumeral muscular dystrophy (FSHD) is a disease most people have never heard of even though it is one of the most common forms of muscular dystrophy. Having a name that is daunting to pronounce and spell doesnt help. But being an
A total of 83 prostate adenocarcinomas was evaluated for allelic loss on chromosome 10 by analysis of loss of polymorphic microsatellite repeats. Initially, 64 stage B carcinomas were analyzed at 12 loci on chromosome 10. Nine cases showed loss of chromosome 10 sequences, with a fractional allelic loss of 20%. These nine cases were then analyzed at an additional 19 loci to define better the regions of loss. Four areas of loss were identified, including 10p (2 of 64 cases), 10q23.1 (7 of 64 cases), 10q23.3 (4 of 64 cases), and 10q26 (2 of 64 cases). Three loci in these regions, D10S111, D10S185, and D10S192, were then analyzed in 19 advanced (stage C and D) carcinomas. Seven (37%) of 19 advanced carcinomas showed allelic loss at one or more of these loci. A statistically significant increase in the fractional allelic loss at both D10S111 (10p) and D10S185 (10q23.1) was observed. Thus, a complex pattern of loss is seen on chromosome 10 in prostate carcinoma, with regions of loss on 10p and 10q, ...
Datasets are collections of data. BioGPS has thousands of datasets available for browsing and which can be easily viewed in our interactive data chart. Learn more.. ...
The goal of this study is to confirm the genetic status of Registry members with suspected FSHD. Genetic testing (DNA testing) by a blood draw can determine whether a patient has FSHD1, FSHD2, or neither. Clinical trials for FSHD often require patients to have had a genetically confirmed FSHD to participate. This study will increase the number of Registry members able to participate in future clinical trials ...
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ABSTRACT Objective: To evaluate the preoperative imaging manifestation and therapeutic effect of laparoscopic simple enucleation (SE) for localized chromophobe renal cell carcinoma (chRCC).. Materials and Methods: Clinical data of 36 patients who underwent laparoscopic SE of localized chRCC at our institute were retrospectively analyzed. All patients underwent preoperative renal protocol CT (unenhanced, arterial, venous, and delayed images). CT scan characteristics were evaluated. After intraoperative occlusion of the renal artery, the tumor was free bluntly along the pseudocapsule and enucleated totally. The patients were followed up regularly after the operation.. Results: Mean tumor diameter was 3.9±1.0 cm, 80% of tumors were homogeneous and all the tumors had complete pseudocapsule. The attenuation values were slightly lower than normal renal cortex and degree of enhancement of the tumors were significantly lower than normal renal cortex. Mean operation time was 104.3±18.2 min. Mean warm ...
HER2/neu overexpression due to gene amplification is an important factor in breast cancer, modifying the sensitivity to anti-HER2 monoclonal antibody therapy. The clinical significance of HER2 expression in non small cell lung carcinoma (NSCLC) is currently under evaluation. The tumor suppressor gene PTEN negatively regulates the HER2/PI3K/Akt signalling pathway. The purpose of this study was to evaluate the role of simultaneous alteration in HER2 and PTEN protein expression in relation to biological behaviour of NSCLCs.. MATERIALS AND METHOD:. Protein expression was determined by immunohistochemistry in 82 NSCLC cases along with CISH for HER2 gene analysis and detection of chromosome 17 aneuploidy. Patients were followed-up for a period of 34 to 41 months after surgery.. RESULTS:. HER2 overexpression (2+/3+ score) was detected in 23 (27.9%) patients while loss of PTEN expression was observed in 32 (39.3%) cases, low expression in 39 (47.6%) and overexpression in 11(13.1%). Simultaneous HER2 ...
FSHD is the third most common muscular dystrophy in man with an estimated incidence of 54 per million. Patients suffer from progressive and irreversible weakness and wasting of the facial, shoulder and upper arm muscles. Approximately 20% of gene carriers become wheelchair dependent. There is no cure for FSHD.. Scientists at LUMC, in collaboration with other academic institutions, have discovered two novel target mechanisms whereby the two forms of FSHD can arise. The mechanisms represent targets for therapeutic intervention.. In addition, cell lines and mouse models of FSHD have been developed and can be used to further research the disease and/or to screen and validate potential therapeutics.. The collaborating institutions represent world-leading expertise in the field of FSHD and can also provide ongoing expertise.. Partner companies are now sought for research collaborations in this field, and licensing of key technologies available at the institutions.. ...
Cowden disease (CD), also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results from a mutation in the PTEN gene on chromosome arm 10q, as reported by Liaw et al. CD causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, central nervous system (CNS), eyes, and genitourinary tract. Skin is involved in 90-100% of cases; the thyroid in 66%.
Brian I. Rini, MD, presents a case study focused on the treatment of a 64 year-old male who presented with recurrent lung nodules 9 years after a left radical nephrectomy for a clear-cell renal ...
Summary: DUX4 underlies pathogenesis in facioscapulohumeral muscular dystrophy. DUX4 acts mainly as a transcriptional activator that inhibits myogenesis by orchestrating a gene expression profile representative of a more stem-cell-like state. ...
Nuramina gerklę ir bronchus (kvėpavimo takus, kurie perneša orą iš plaučių ir į plaučius). Padeda išstumti gleives. Laikoma atpalaiduojančia refleksine, atsikosėjimą lengvinančia priemone, kas reiškia, kad ji padeda sušvelninti kraujo priplūdimą, sumažindama gleivėtų išskyrų (skreplių) klampą, todėl jos lengviau išstumiamos.. ...