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Longer titles found: Myotonic Dystrophy Foundation (view)

searching for Myotonic dystrophy 54 found (159 total)

DMWD (gene) (587 words) [view diff] exact match in snippet view article

Sabourin L, Lennon G, et al. (Jun 1993). "Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs". Nat Genet

CDC42BPA (954 words) [view diff] exact match in snippet view article find links to article

functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive

Kocher–Debre–Semelaigne syndrome (1,925 words) [view diff] exact match in snippet view article find links to article

myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome. The adult-onset form of this syndrome is Hoffmann syndrome

FXYD1 (776 words) [view diff] exact match in snippet view article find links to article

kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel

C. Thomas Caskey (1,165 words) [view diff] case mismatch in snippet view article find links to article

expansion of short tandem repeat DNA sequences causative of FragileX, Myotonic Dystrophy, Ataxia, and now over 40 additional diseases (Giovanni Herenzini Foundation

MT-TA (196 words) [view diff] exact match in snippet view article find links to article

tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy". Journal of Medical Genetics. 40 (10): 752–757. doi:10.1136/jmg.40

EuroBioBank (293 words) [view diff] case mismatch in snippet view article find links to article

London MRC Centre for Neuromuscular Diseases BioBank, Newcastle Quebec Myotonic Dystrophy Biocatalog Genomic and Genetics Disorders Biobank (GGNB) at the Casa

ATP2A1 (1,378 words) [view diff] exact match in snippet view article find links to article

different isoforms. Alternative splicing of ATP2A1 is also implicated in myotonic dystrophy type 1. ATP2A1 SERCA pumps were very strongly down regulated in amyotrophic

SIX5 (589 words) [view diff] exact match in snippet view article find links to article

homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat". Hum Mol Genet. 4 (10): 1919–25. doi:10.1093/hmg/4

ODC internal ribosome entry site (IRES) (369 words) [view diff] exact match in snippet view article

2007.09.112. PMID 17927956. Gerbasi, VR; Link, AJ (June 2007). "The myotonic dystrophy type 2 protein ZNF9 is part of an ITAF complex that promotes cap-independent

HSPB2 (1,137 words) [view diff] exact match in snippet view article find links to article

HSPB2 gene. HSPB2 has been shown to interact with: CRYAB, HSPB8, Myotonic dystrophy protein kinase and TRAF6. GRCh38: Ensembl release 89: ENSG00000170276

RSPH6A (553 words) [view diff] exact match in snippet view article find links to article

(Mar 2001). "A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus". Biochem Biophys Res Commun. 281 (4): 835–41. doi:10.1006/bbrc

Zinc finger protein 800 (1,629 words) [view diff] exact match in snippet view article find links to article

as well as a correlation between decreased ZNF800 expression and myotonic dystrophy type 2 (GEO Profile of ZNF800 Figure 2). The 20 most common SNP's

Acceleromyograph (356 words) [view diff] exact match in snippet view article find links to article

0000204288.24395.38. PMID 16632846. S2CID 23541155. Comparison of mechanomyography and acceleromyography in myotonic dystrophy type 1 at Respond2Articles.com

Peter Harper (geneticist) (418 words) [view diff] case mismatch in snippet view article

services to Medicine. Practical Genetic Counselling, 1998 Hodder Arnold Myotonic Dystrophy: The Facts, 2002 Landmarks in Medical Genetics, 2004 OUP First Years

Robert B. Darnell (2,294 words) [view diff] exact match in snippet view article find links to article

and autism), RbFox (associated with autism), Mbnl (associated with myotonic dystrophy), Elavl (the Hu PND antigen) and cancer (including RBM47 and Argonaute-miRNA

Gene Yeo (1,303 words) [view diff] exact match in snippet view article find links to article

aberrant RNA processing events that contribute to diseases such as myotonic dystrophy and neurodegenerative disorders. Yeo co-founded Locana, Inc. (later

Muscular system (1,759 words) [view diff] exact match in snippet view article find links to article

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) Myotonic dystrophy Limb-Girdle (LGMD) Facioscapulohumeral dystrophy (FSHD) Congenital

OPA3 (696 words) [view diff] exact match in snippet view article find links to article

disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene". Human Molecular Genetics. 6 (4): 563–569. doi:10

LIMK2 (1,114 words) [view diff] exact match in snippet view article find links to article

Shibuya A, Nakamura T (Jun 2001). "Activation of LIM kinases by myotonic dystrophy kinase-related Cdc42-binding kinase alpha". The Journal of Biological

RNA activation (4,017 words) [view diff] case mismatch in snippet view article find links to article

Neuromuscular Disorders: The application of RNAa has been investigated for Myotonic Dystrophy type 1 (DM1), a dominant inherited neuromuscular disorder. The core

MBNL3 (412 words) [view diff] exact match in snippet view article find links to article

human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy". EMBO J. 19 (17): 4439–48. doi:10.1093/emboj/19.17.4439. PMC 302046

ATP1A3 (1,485 words) [view diff] exact match in snippet view article find links to article

alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus". Genomics. 3 (4): 380–4. doi:10.1016/0888-7543(88)90131-0.

LIMK1 (1,420 words) [view diff] exact match in snippet view article find links to article

Matsumoto K, Shibuya A, Nakamura T (2001). "Activation of LIM kinases by myotonic dystrophy kinase-related Cdc42-binding kinase alpha". J. Biol. Chem. 276 (25):

PyMC (1,483 words) [view diff] case mismatch in snippet view article find links to article

Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy". PLOS Genetics. 12 (9) e1006316. doi:10.1371/journal.pgen.1006316

SYMPK (898 words) [view diff] exact match in snippet view article find links to article

Brook JD (Jun 1998). "Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat". Mammalian Genome. 9 (6): 485–7. doi:10.1007/s003359900804

List of hospitals in Tunisia (992 words) [view diff] case mismatch in snippet view article find links to article

"Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature". Case Reports in Endocrinology:

Camptocormia (1,767 words) [view diff] exact match in snippet view article find links to article

These include the RYR1 gene in axial myopathy, the DMPK gene in myotonic dystrophy, and genes related to dysferlinopathy and Parkinson's disease. These

Small nuclear ribonucleoprotein polypeptide A (1,090 words) [view diff] exact match in snippet view article find links to article

intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region". Cytogenetics and Cell Genetics. 54 (1–2): 15–9. doi:10

Iron response element (1,989 words) [view diff] exact match in snippet view article find links to article

T. Leung; X. Q. Chen; I. Tan; E. Manser & L. Lim (January 1998). "Myotonic dystrophy kinase-related Cdc42-binding kinase acts as a Cdc42 effector in promoting

RHOQ (1,273 words) [view diff] exact match in snippet view article find links to article

PMID 14702039. Ng Y, Tan I, Lim L, Leung T (2004). "Expression of the human myotonic dystrophy kinase-related Cdc42-binding kinase gamma is regulated by promoter

BIN1 (1,419 words) [view diff] exact match in snippet view article find links to article

myopathies including centronuclear myopathy causing muscle weakness and myotonic dystrophy causing progressive muscle wasting, myotonia, cataracts, and heart

PPP1R12A (1,081 words) [view diff] exact match in snippet view article find links to article

PMID 11283607. S2CID 36187702. Murányi A, Zhang R, Liu F, et al. (2001). "Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit

ZSWIM9 (2,154 words) [view diff] exact match in snippet view article find links to article

processes. Additionally, higher expression of ZSWIM9 was seen in myotonic dystrophy type 2, which is muscle dysfunction in numerous muscle types including

Cofilin 1 (1,199 words) [view diff] exact match in snippet view article find links to article

Matsumoto K, Shibuya A, Nakamura T (2001). "Activation of LIM kinases by myotonic dystrophy kinase-related Cdc42-binding kinase alpha". J. Biol. Chem. 276 (25):

SK3 (1,941 words) [view diff] exact match in snippet view article find links to article

channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients". Acta Myol. 27 (3): 82–9. PMC 2858941. PMID 19472917

Fever of unknown origin (2,421 words) [view diff] exact match in snippet view article find links to article

cirrhosis Mesenteric fibromatosis Metal fume fever Milk protein allergy Myotonic dystrophy Nonbacterial osteitis Organic dust toxic syndrome Panniculitis POEMS

Billie Lee Turner II (1,751 words) [view diff] exact match in snippet view article find links to article

son, Billie Lee Turner III (Aug. 15, 1970-18 May, 2013) died from myotonic dystrophy (MD), as did his first wife, Linda Lee (Van Zandt) Turner in May 2011

RAC1 (3,117 words) [view diff] exact match in snippet view article find links to article

Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase". FEBS Letters. 475 (3): 273–277. doi:10.1016/S0014-5793(00)01692-6

Citron kinase (2,474 words) [view diff] exact match in snippet view article find links to article

approximately 50% sequence identity to the sequences of ROCK, ROK, myotonic dystrophy protein kinase (MDPK) and the CDC42 effector known as MRCK or GEK

Ekhane Aakash Neel (2008 TV series) (2,537 words) [view diff] case mismatch in snippet view article

accepted Vicky in her life. In the meantime Hiya was diagnosed as having Myotonic Dystrophy-a genetic disorder, by her Gynaecologist Dr. Deepa who opined that

Rho-associated protein kinase (2,181 words) [view diff] exact match in snippet view article find links to article

kinase domains. ROCKs are homologous to other metazoan kinases such as myotonic dystrophy kinase (DMPK), DMPK-related cell division control protein 42 (Cdc42)-binding

CUGBP2 (1,074 words) [view diff] exact match in snippet view article find links to article

RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy". Hum Mol Genet. 8 (1): 53–60. doi:10.1093/hmg/8.1.53. PMID 9887331

Lumleian Lectures (4,124 words) [view diff] case mismatch in snippet view article find links to article

Peter S. Harper, New Genes for Old Diseases; the Molecular Basis of Myotonic Dystrophy and Huntington's Disease 1996 M. W. Adler, Sun, Sex and Responsibility

Constipation (4,847 words) [view diff] exact match in snippet view article find links to article

fibrosis. Constipation is also common in individuals with muscular and myotonic dystrophy. Systemic diseases that may present with constipation include celiac

Zinc-finger nuclease (4,685 words) [view diff] exact match in snippet view article find links to article

inherited neurological disorders including Huntington's disease, myotonic dystrophy, and several spinocerebellar ataxias. It has been demonstrated in

Clubfoot (5,934 words) [view diff] exact match in snippet view article find links to article

and Neurologic abnormalities: arthrogryposis multiplex congenita, myotonic dystrophy, spinal muscular atrophy, neural tube defects, holoprosencephaly,

Sarah Tabrizi (3,689 words) [view diff] exact match in snippet view article find links to article

modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1". Brain. 142 (7): 1876–1886. doi:10.1093/brain/awz115. ISSN 0006-8950

G-quadruplex (12,083 words) [view diff] exact match in snippet view article find links to article

CA (August 2012). "Targeting nuclear RNA for in vivo correction of myotonic dystrophy". Nature. 488 (7409): 111–5. Bibcode:2012Natur.488..111W. doi:10.1038/nature11362

PEPD (3,545 words) [view diff] exact match in snippet view article find links to article

"Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q". Human Genetics. 75 (3): 291–3. doi:10.1007/BF00281077

Cross-linking immunoprecipitation (4,892 words) [view diff] exact match in snippet view article find links to article

alternative splicing in the developing brain and dysregulation in myotonic dystrophy". Neuron. 75 (3): 437–450. doi:10.1016/j.neuron.2012.05.029. PMC 3418517

Progeroid syndromes (8,754 words) [view diff] exact match in snippet view article find links to article

in lipid and carbohydrate metabolism, a triplet-repeat disorder (myotonic dystrophy) and an idiopathic disorder Hayley Okines was an English girl with

List of human clusters of differentiation (499 words) [view diff] exact match in snippet view article find links to article

neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. CD232 Plexin-C1 (PLXNC1 gene); also called Virus-encoded semaphorin

Specialized pro-resolving mediators (7,309 words) [view diff] exact match in snippet view article find links to article

Sato T, Yamauchi N (1989). "[Isoflurane anesthesia for a child with myotonic dystrophy]". Masui. The Japanese Journal of Anesthesiology (in Japanese). 38