Wolfram syndrome
"wolfram syndrome research Fumi Urano". Unravel Wolfram Syndrome. Retrieved 2 November 2018. "Wolfram syndrome". ghr.nlm.nih.gov ... Two genetic forms have been described: Wolfram syndrome 1 (WFS1), and Wolfram syndrome 2 (WFS2). The WFS1 or wolframin gene ... "Clinical Trials". Wolfram Syndrome International Registry. 5 October 2016. Retrieved 2 November 2018. "Wolfram syndrome - ... thus slowing progression of Wolfram syndrome.[citation needed] A three tiered approach toward the treatment of Wolfram syndrome ...
Wolfram-like syndrome
... is also known to be less severe than Wolfram syndrome itself. Delusional disorder Mair H, Fowler N, ... "Orphanet: Wolfram like syndrome". www.orpha.net. Retrieved 2022-10-07. "Wolfram-like syndrome (Concept Id: C3280358) - MedGen ... "Unravel Wolfram Syndrome". Unravel Wolfram Syndrome. Retrieved 2022-10-07. (CS1 Spanish-language sources (es), CS1 Czech- ... Symptoms are another example of the difference between Wolfram syndrome and Wolfram-like syndrome; intellectual disabilities, ...
WFS1
Polymeropoulos MH, Swift RG, Swift M (Jan 1995). "Linkage of the gene for Wolfram syndrome to markers on the short arm of ... 2001). "WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells ... 2002). "Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss". Hum. ... 2002). "Is there a relationship between Wolfram syndrome carrier status and suicide?". Am. J. Med. Genet. 114 (3): 343-6. doi: ...
Bulbar palsy
Wolfram syndrome. Inflammatory/infective: Guillain-Barré syndrome, poliomyelitis, Lyme disease. Cancer: brainstem glioma, ... In contrast, pseudobulbar palsy is a clinical syndrome similar to bulbar palsy but in which the damage is located in upper ...
CISD2
Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]. CDGSH iron sulfur domain GRCh38: ... Shu SG, Tsai CR, Chi CS (November 2003). "Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings". J. Formos ... is responsible for Wolfram syndrome 2". Am. J. Hum. Genet. 81 (4): 673-83. doi:10.1086/520961. PMC 2227919. PMID 17846994. ... The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2". J. Mol. Biol. 392 (1): 143-53. doi:10.1016/j.jmb.2009.06.079 ...
Genetic causes of type 2 diabetes
Wolfram's syndrome is an autosomal recessive neurodegenerative disorder that first becomes evident in childhood. It consists of ... Donohue syndrome, and Rabson-Mendenhall syndrome, among others. Maturity onset diabetes of the young constitute 1-5% of all ... Barrett TG (September 2001). "Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes". Best Practice & Research ...
Central diabetes insipidus
Wolfram syndrome (also called DIDMOAD) is characterised by diabetes mellitus, sensorineural deafness, and optic atrophy.[ ...
Excision repair cross-complementing
Members 6 and 8 are associated with Cockayne syndrome. Wolfram Siede; Friedberg, Errol C.; Walker, Graham S. (1995). "Chapter 8 ...
Nephrotic syndrome
Wolfram; Baig, Shahid Mahmood; Alkuraya, Fowzan S.; Shen, Qian; Xu, Hong; Antignac, Corinne; Lifton, Richard P.; Mane, Shrikant ... A broad classification of nephrotic syndrome based on underlying cause: Nephrotic syndrome is often classified histologically: ... Cushing's syndrome Nephrotic syndrome has many causes and may either be the result of a glomerular disease that can be either ... called secondary nephrotic syndrome. Primary causes of nephrotic syndrome are usually described by their histology: Minimal ...
Hardcastle syndrome
Jamil, Wiqqas; Allami, Mohammad K.; Mbakada, Nikita; Kluge, Wolfram (December 2009). "Total knee arthroplasty in a patient with ... Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Hardcastle Syndrome", Syndromes: Rapid ... Hardcastle syndrome is a rare genetic disorder on chromosome 9 at 9p22-p21. It affects the long bones. There is a high risk for ... "Hardcastle syndrome". TheFreeDictionary.com. Retrieved 2019-06-05. (Articles with short description, Short description is ...
Kearns-Sayre syndrome
Birtel, Johannes; von Landenberg, Christina; Gliem, Martin; Gliem, Carla; Reimann, Jens; Kunz, Wolfram S.; Herrmann, Philipp; ... Syndromes affecting the heart, Syndromes affecting the eye, Syndromes affecting hearing, Syndromes including diabetes mellitus) ... Rare syndromes, Syndromes affecting the endocrine system, Disorders of ocular muscles, binocular movement, accommodation and ... Kearns-Sayre syndrome occurs spontaneously in the majority of cases. In some cases it has been shown to be inherited through ...
Wolfram
... a naming system for one-dimensional cellular automaton rules introduced by Stephen Wolfram Wolfram syndrome, a genetic disorder ... Look up Wolfram or wolfram in Wiktionary, the free dictionary. Wolfram may refer to: Wolfram (name) Wolfram, the original name ... Wolfram, Queensland, a former mining town in Australia The Wolfram, a fictional military airship in the air combat video game ... Aces All pages with titles containing Wolfram This disambiguation page lists articles associated with the title Wolfram. If an ...
Wendy Chung
Chung has researched mutations and disease associations with Wolfram syndrome, Wolman disease, Leigh syndrome, glycogen storage ... Chilton-Okur-Chung neurodevelopmental syndrome, and Chung-Jansen syndrome. Chung worked primarily in research related to the ... rare cancer syndromes, arrhythmia, seizures, and spinal muscular atrophy. She is working on developing treatments for rare ... "Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects". The ...
Neonatal diabetes
... including IPEX syndrome, Wolcott-Rallison syndrome, and Wolfram syndrome. Symptoms vary widely based on the syndrome. People ... Syndromic neonatal diabetes is the term for diabetes as just one component of any of several complex syndromes that affect ... Some variations in immune gene FOXP3 can cause IPEX syndrome, a severe and multifaceted disease that includes neonatal diabetes ...
WellChild
... and supports families who have children with the rare genetic condition Wolfram syndrome. The charity was founded in 1977 with ...
Mohr-Tranebjærg syndrome
McLeod neuroacanthocytosis syndrome Pendred syndrome Usher syndrome type 1 and 2 Wolfram syndrome X-linked spinocerebellar ... Mohr-Tranebjærg syndrome (MTS) is a rare X-linked recessive syndrome also known as deafness-dystonia syndrome and caused by ... MOHR-TRANEBJAERG SYNDROME; MTS". OMIM - Online Mendelian Inheritance in Man. Retrieved 2021-04-26. "Mohr-Tranebjaerg syndrome ... Mohr-Tranebjᴂrg syndrome (MTS) prevalence is unknown. More than 90 cases (in 37 families) are known, but not all cases have ...
Sandra and Woo
In strip #718 it was revealed that she was born with Wolfram syndrome, which means she has a lifespan of about 30 years, giving ...
List of MeSH codes (C16)
Smith-Lemli-Opitz syndrome MeSH C16.131.077.938 - Waardenburg syndrome MeSH C16.131.077.951 - Wolfram syndrome MeSH C16.131. ... MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ... Wolfram syndrome MeSH C16.320.400.700 - Rett syndrome MeSH C16.320.400.765 - spinal muscular atrophies of childhood MeSH ... branchio-oto-renal syndrome MeSH C16.131.260.190 - cri du chat syndrome MeSH C16.131.260.210 - De Lange syndrome MeSH C16.131. ...
Index of genetics articles
... tumor Wobble Wolfram syndrome X chromosome X hyperactivation X linkage X linked X-and-Y linkage X-inactivation X:A ratio ... Junk DNA Kappa particle Kartagener's syndrome Karyokinesis Karyotype Kilobase Kin selection Kinetochore Klinefelter syndrome ... Ala Alagille syndrome Albino Alcoholism Alkylating agent Allele Allele frequency Alleles Allopolyploid Allosteric protein ... Leader transcript Leading strand Leaky mutant Lesion Lethal gene Leu Leucine zipper Leukemia Li-Fraumeni syndrome Library ( ...
Index of molecular biology articles
Wolfram syndrome - WWE protein domain - XPC-binding - XPG I protein domain - Xyloglucan endo-transglycosylase - YAC (yeast ... Fragile X syndrome - frameshift mutation - fructose 5-dehydrogenase - fucoidanase - fungal fruit body lectin family - fusion ... Alagille syndrome - alkaline lysis - allele - amino acids - amino terminus - amp resistance - amplification - amplicon - anchor ... syndrome - T7 RNA polymerase - taq polymerase - TATA box - taurochenodeoxycholate 6α-hydroxylase - taxadiene 5alpha-hydroxylase ...
List of MeSH codes (C19)
... digeorge syndrome MeSH C19.700.159.750 - diabetes insipidus, neurogenic MeSH C19.700.159.875 - wolfram syndrome MeSH C19.700. ... wolfram syndrome MeSH C19.246.300.500 - diabetes mellitus, lipoatrophic MeSH C19.344.078.265 - adrenal cortex neoplasms MeSH ... Kallmann syndrome MeSH C19.391.482.629 - Klinefelter syndrome MeSH C19.391.482.814 - sexual infantilism MeSH C19.391.630.050 - ... cushing syndrome MeSH C19.053.800.604 - hyperaldosteronism MeSH C19.053.800.604.249 - bartter syndrome MeSH C19.246.099.500 - ...
List of MeSH codes (C11)
... wolfram syndrome MeSH C11.640.513 - optic disk drusen MeSH C11.640.530 - optic nerve injuries MeSH C11.640.544 - optic nerve ... Wolfram syndrome MeSH C11.270.660 - retinal dysplasia MeSH C11.270.684 - retinitis pigmentosa MeSH C11.270.684.500 - Usher ... horner syndrome MeSH C11.710.570 - mydriasis MeSH C11.710.800 - tonic pupil MeSH C11.710.800.180 - aide syndrome MeSH C11.744. ... Hermansky-Pudlak syndrome MeSH C11.270.060 - aniridia MeSH C11.270.060.950 - WAGR syndrome MeSH C11.270.142 - choroideremia ...
List of MeSH codes (C18)
... wolfram syndrome MeSH C18.452.394.750.149 - diabetes mellitus, type 2 MeSH C18.452.394.750.149.500 - diabetes mellitus, ... MELAS syndrome MeSH C18.452.100.100.540 - Menkes kinky hair syndrome MeSH C18.452.100.100.545 - MERRF syndrome MeSH C18.452. ... MELAS syndrome MeSH C18.452.648.151.450 - menkes kinky hair syndrome MeSH C18.452.648.151.505 - MERRF syndrome MeSH C18.452. ... Li-Fraumeni syndrome MeSH C18.452.284.600 - Nijmegen breakage syndrome MeSH C18.452.284.760 - Rothmund-Thomson syndrome MeSH ...
List of MeSH codes (C12)
... wolfram syndrome MeSH C12.777.419.192 - diabetic nephropathies MeSH C12.777.419.250 - fanconi syndrome MeSH C12.777.419.291 - ... denys-drash syndrome MeSH C12.740.700.842.425 - kallmann syndrome MeSH C12.740.700.842.454 - klinefelter syndrome MeSH C12.740. ... denys-drash syndrome MeSH C12.740.800.820.750.585.950 - wagr syndrome MeSH C12.740.800.820.750.790 - nephroma, mesoblastic MeSH ... denys-drash syndrome MeSH C12.777.419.473.585.950 - wagr syndrome MeSH C12.777.419.473.790 - nephroma, mesoblastic MeSH C12.777 ...
Chromosome 4
... syndrome SADDAN Tetrahydrobiopterin deficiency Thanatophoric dysplasia Type 1 Type 2 Wolfram syndrome Wolf-Hirschhorn syndrome ... Wolfram syndrome 1 (wolframin) ZGRF1: zinc-finger GRF-type containing 1 ZNF621: encoding protein Zinc finger protein 621 The ... syndrome Chronic lymphocytic leukemia Congenital central hypoventilation syndrome Ellis-Van Creveld syndrome ... Ellis-Van Creveld syndrome EVC2: Ellis-Van Creveld syndrome 2 (limbin) Factor XI: Mutations cause Haemophilia C FAM114A1: ...
List of syndromes
... syndrome Withering abalone syndrome Wobbly hedgehog syndrome Wolcott-Rallison syndrome Wolff-Parkinson-White syndrome Wolfram ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
Wolfram Samlowski
... induced hypotension and vascular leak syndrome. J Immunother 34:419-27, 2011. Eroglu Z, Kong M, Jakowatz JG, Akerly W, ... Wolfram Samlowski, MD - Las Vegas, NV , Oncology on Doximity". "Formulations of lymphokines and method of use thereof for local ... Wolfram Samlowski (born August 16, 1954) is an American medical oncologist with Comprehensive Cancer Centers of Nevada (CCCN) ... KLAS-TV Las Vegas, November 15, 2011 "Wolfram Samlowski, MD, FACP - Comprehensive Cancer Centers of Nevada". www.cccnevada.com ...
Failure of eruption of teeth
These syndromes are Cleidocranial dyspalsia, Osteoporosis, Rutherford syndrome, GAPO syndrome and Osteoglophonic dysplasia. ... Decker, Eva; Stellzig-Eisenhauer, Angelika; Fiebig, Britta S.; Rau, Christiane; Kress, Wolfram; Saar, Kathrin; Rüschendorf, ... There have been many syndromes which have been identified to be related to failure of eruption of teeth. ...
List of OMIM disorder codes
PRKAG2 Wolfram syndrome 2; 604928; CISD2 Wolfram syndrome; 222300; WFS1 Wolfram-like syndrome, autosomal dominant; 222300; WFS1 ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
List of University of Utah people
... and discovered and delineated Smith-Lemli-Opitz syndrome, Opitz-Kaveggia syndrome, Opitz G/BBB syndrome, Bohring-Opitz syndrome ... chair of the science committee of the American Academy of Neurology Wolfram Samlowski - oncologist; former director of the ... pediatrician who described Sanfilippo syndrome Ellis Reynolds Shipp - one of the first female doctors in Utah Braden Barty - ...