Rothmund-Thomson syndrome (RTS) is a rare genetic disease that affects many parts of the body, particularly the skin which is typically normal at birth. The first sign of this disease is a rash that starts on the cheeks between ages three months and six months as erthema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectases. These skin problems persist for life, and are collectively known as poikiloderma. This disease is also characterized by sparse hair, eyebrows, and eyelashes, slow growth and small stature, abnormalities of the teeth and nails, juvenile cataract, skeletal abnormalities (mainly osteopenia and defects of the radial ray: thumb appendages, hypoplasia or aplasia of the thumbs, or radial aplasia), gastrointestinal problems in infancy such as chronic diarrhea and vomiting, premature aging and ...
RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.. Most affected individuals have underdevelopment or absence of the bones in the forearms and the thumbs, which are known as radial ray malformations. The kneecaps (patellae) can also be underdeveloped or absent. Other features include an opening in the roof of the mouth (cleft palate) or a high arched palate; a long, slender nose; and dislocated joints.. Many infants with RAPADILINO syndrome have difficulty feeding and experience diarrhea and vomiting. The combination of impaired bone development and feeding problems leads to slow growth and short stature in affected individuals.. Some individuals with RAPADILINO syndrome have harmless light brown patches of skin that resemble a skin finding known as café-au-lait spots. In addition, people with RAPADILINO syndrome have a slightly increased risk of developing a type ...
C16orf57 Full-Length MS Protein Standard (NP_078874), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
causes a rapid bone marrow failure in mice that involves cells from across the myeloid, lymphoid, and, most profoundly, erythroid lineages. Apoptosis was markedly elevated in multipotent progenitors lacking RECQL4 compared with WT cells. While the stem cell compartment was relatively spared in RECQL4-deficent mice, HSCs from these animals were not transplantable and even selected against. The requirement for RECQL4 was intrinsic in hematopoietic cells, and loss of RECQL4 in these cells was associated with increased replicative DNA damage and failed cell-cycle progression. Concurrent deletion of p53, which rescues loss of function in animals lacking the related helicase BLM, did not rescue BM phenotypes in RECQL4-deficient animals. In contrast, hematopoietic defects in cells from ...
RECQL4 is located on the q arm of chromosome 8 and is 6,562 bases long ranging from 144,511,284 to 144,517,845 base pairs pter. It contains 21 exons and translates into a 1208aa long protein with a molecular weight of 133,077Da. 4 paralogs of this gene exist. The protein exhibits a unique Sld-2 like N-terminal domain thought to be essential for initiating DNA replication, as well as helicase domains with 7 nucleic acid binding consensus motifs. RECQL4 is variably expressed in the nucleus in most tissues. The gene is most expressed in the testis, thymus, skin, and bone marrow. Protein expression is most abundant in dividing cells and in the lung. Over 40 loss of function homozygous and compound heterozygous RECQL4 mutations are associated with 60% of Rothmund-Thomson Syndrome (RTS) cases; RTS cases are at a high risk of developing osteosarcoma. RECQL4 is the only gene linked to RTS; cytogenetic abnormalities in chromosome 8 including partial duplication, trisomy, and tetrasomy were reported in ...
NIA AGING CELL REPOSITORY WWW CATALOG To ensure that investigators have access to the most up-to-date information and complete listings of cell cultures, a World Wide Web version of the NIA Aging Cell Repository catalog is now available (http://locus.umdnj.edu/nia). The Repository has human cell cultures from individuals with aging-related conditions. These include disorders of accelerated aging (e.g., progeria, Werner syndrome, Cockayne syndrome, Rothmund-Thomson syndrome, and Down syndrome) and cell cultures from familial Alzheimer disease extended pedigrees. The collection also includes specially characterized normal human diploid fibroblast cultures (IMR90 and IMR91) and over 500 skin fibroblast cultures from subjects participating in the NIA-sponsored Gerontology Research Center Baltimore Longitudinal Study of Aging. In addition, the Aging Cell Repository has human and animal differentiated cell cultures (epithelial, endothelial, and smooth muscle), human mammary epithelial and keratinocyte ...
A 52-year-old woman with right posterior canal benign paroxysmal positional vertigo sustained a right carotid artery dissection following a canalith repositioning procedure. Anti-platelet IgG autoantibody was detected rarely in the plasma of 53 patients with secondary dengue infection. The Psychostimulant Check-Up: A pilot study of a brief intervention to reduce illicit stimulant use. We report the case of a child www generic viagra prices with Rothmund-Thomson syndrome suffering from multiple airway abnormalities. During a follow-up period ranging from 3 to 24months, all patients ate normally without vomiting and abdominal distension and grew normally. Interclass correlations reached significance only in pairs of biological brothers and sisters, and in pairs of DZ and MZ twins.. Most paraneoplastic pemphigus (PNP) cases reported to date have been associated with lymphoproliferative neoplasms. Most remarkable were viagra prices without insurance differences in phenotype of the psoriatic TAC ...
RAPADILINO is a rare autosomally recessively inherited malformation syndrome. The acronym introduces the main clinical features: RAdial hypo-/aplasia, PAtellae hypo-/aplasia and cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size and LImb malformation, NOse slender and NOrmal intelligence. The disease is more prevalent in Finland than elsewhere in the world; 14 patients have been reported in Finland and only 2 in other countries.
Poikiloderma of Civatte is a chronic, non-cancerous (benign) skin condition in fair-skinned adults, which is probably caused by long-term sun exposure. Poikiloderma of Civatte shows a specific pattern of color change in the skin due to sun damage to the neck and sometimes the center of the chest.. ...
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010 ...
Poikiloderma Symptom Checker: Possible causes include Rothmund Thomson Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
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The road to the current understanding of Xeroderma Pigmentosum [XP] started in late 19th century with Dr. Moriz Kaposi, a Hungarian-born professor of dermatology in Vienna. In 1874, Kaposi described 4 patients with Xeroderma or parchment skin in the early textbook of dermatology (Hebra and Kaposi, 1874), which he wrote with Professor Ferdinand Hebra, his father-in-law (Kraemer et al., 1987). In addition to the parchment-like dryness, thinness, and wrinkling of the epidermis, the checkered pigmentation and the small dilatations of the vessels, the most remarkable symptoms were the contraction and, at the same time, thinning of the skin, features designating poikiloderma. ...
Birth weight, length, and head circumference were all normal. A rash on lower legs and feet developed at approximately 10 months of age, then spread along the hands, forearms, thighs, buttock, ears and face. Poikiloderma spared the trunk, abdomen, and popliteal and antecubital fossae. Multiple infections, including rhinitis, otitis media and pneumonia since 1 year of age, were reported. Nail, hair, teeth, palms and soles were all normal. No hepatosplenomegaly. No osteopenia. Social and cognitive development were within normal limits ...
...Two independent papers in the December 1st issue of G&D detail how hum...The human RecQ family of helicases consists of 5 members: WRN BLM RE...Dr. Alexander Mazin (Drexel University College of Medicine) and collea...In a separate paper Drs. Guangbin Luo (Case Western Reserve Univerist...,Human,RecQ,helicases,,homologous,recombination,and,genomic,instability,biological,biology news articles,biology news today,latest biology news,current biology news,biology newsletters
Abstract: The recessive disorder poikiloderma with neutropenia (PN) is caused by mutations in the C16orf57 gene that encodes the highly conserved USB1 protein. Here, we present the 1.1 Å resolution crystal structure of human USB1, defining it as a member of the LigT-like superfamily of 2H phosphoesterases. We show that human USB1 is a distributive 3′-5′ exoribonuclease that posttranscriptionally removes uridine and adenosine nucleosides from the 3′ end of spliceosomal U6 small nuclear RNA (snRNA), directly catalyzing terminal 2′, 3′ cyclic phosphate formation. USB1 measures the appropriate length of the U6 oligo(U) tail by reading the position of a key adenine nucleotide (A102) and pausing 5 uridine residues downstream. We show that the 3′ ends of U6 snRNA in PN patient lymphoblasts are elongated and unexpectedly carry nontemplated 3′ oligo(A) tails that are characteristic of nuclear RNA surveillancetargets. Thus, our study reveals a novel quality control pathway in which ...
Clinically evocated by the skin lesions with a three-stage evolution. Skin is normal at birth. After the age of 6 months, a diffuse erythema, scaling, and freckle-like areas of increased pigmentation, initially on the face can be seen. The second stage is characterized by poikiloderma and the third stage by the appearance of numerous malignancies. Diagnosis may be suspected and can be made during the first stage. It is confirmed in vitro and by a skin biopsy. ...
This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014 ...
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Complete information for RECQL5 gene (Protein Coding), RecQ Like Helicase 5, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Dean D Kindler MD is a Neurologist who practices in Kalamazoo, MI. Get a full report about this doctors background by clicking here.
Hi Sharon, Thanks a lot for the offer - I finally managed to enter the request (dont understand why it/I failed the first time, but will ignore that for now … ;-) ) Cheers Jürgen -- Jürgen Kindler Von: Sharon Lucas ,[email protected],mailto:[email protected],, Datum: Thursday, November 29, 2012 17:25 An: Jürgen Kindler ,[email protected],mailto:[email protected],, Cc: [email protected],mailto:[email protected], ,[email protected],mailto:[email protected],, Betreff: Re: [staf-users] Support of long folder names on windows systems If you are logged in to SF, then you should be able to add a new feature request unless SourceForge was having an issue at the time you tried it. I can create this feature request for you if you like. -------------------------------------------------------------- Sharon Lucas IBM Austin, [email protected],mailto:[email protected], (512) 286-7313 or Tieline 363-7313 From: Juergen Kindler ,[email protected],mailto:[email protected],, To: [email protected],mailto:[email protected], ,[email protected],mailto:[email protected],,, Cc: ...
The biggest drug company in the world has a new man at the helm, and analysts are hoping Jeffrey Kindler wont make the same mistakes as his outgoing predecessor, Henry McKinnell.
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P13173: A. Di Nitto, A. Yakushev, Ch.E. Dullmann, J. Khuyagbaatar, J. Krier, J. Ballof, J. Bar, T. Budzyński, D.M. Cox, X. Derkx, J. Dormand, J. Despotopulos, K. Eberhardt, J. Even, P. Grabiec, L. Harkness-Brennan, R.D. Herzberg, A. Hubner, E. Jager, D. Judson, B. Kindler, H. Kłos, J.V. Kratz, J. Kulawik, N. Kurz, L. Lens, B. Lommel, K.J. Moody, C. Mokry, A. Panas, P. Prokaryn, D. Rudolph, J. Runke, I. Rusanov, P. Scharrer, B. Schausten, D.A. Shaughnessy, D. Szmigiel, D. Ward, M. Węgrzecki: "ALBEGA: A Decay Spectroscopy Setup for Chemically Separated Samples", (2015) ...
1: MAEEYKEALL EKQNYHDGCP GCKVEQMKQL RRGYPYLELS FVWIIVLSTS LPISSLYPFL 61: YYMIEDFGVA KTEKDIGFYA GFVGCSFMLG RALTSVFWGI VADRYGRKPI ILLGTISIAI 121: FNALFGLSSN FWMAIGTRFL LGSFNCLLGT MKAYASEIFR DEYQATAMSA VSTAWGIGLI 181: IGPALGGFLA QPADKYPNVF SQESLFGRFR YALPCFTISA FALLVTVLCC FIPETLHNHK 241: LDSLSHDDSY DILEAASHES SPSTGKAGKN ERKASQSLLK NWPLMSSIIV YCVLCLHDTA 301: YSEIFALWAN SPRKYGGLSY STNEVGTVLA ISGLGLFSFQ VFVYPLAEKL LGPVLVTRYA 361: GALMIPIQMS YPFIAGLSGL SLSLMLNCAS ILINVLSVSA ITGLLILQNR AVDQSQRGAA 421: NGIAMTAMSL FKTVGPAGAG ILFSWSERRL NAAFLPGSHM VFFVLNVIVV VGVALTFKPF 481: ...
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Doctrine du jugement fondé sur le droit dun état, indépendamment du droit fédéral: selon cette doctrine, une cour fédérale, dans la procédure dhabeas, ne revoit pas une prétention rejetée par une cour dun des états de lUnion si la décision de la cour étatique est fondée sur des règles de droit étatique indépendantes de la question relevant du droit fédéral et adéquates pour soutenir dite décision étatique. Une règle de droit procédural étatique nest pas automatiquement « inadéquate » (et par conséquent non prise en compte dans la procédure fédérale dhabeas) au sens de cette doctrine du fait quelle peut être appliquée par létat de manière discrétionnaire plutôt quobligatoire. La question de savoir si une règle de droit procédural étatique est adéquate est une question de droit fédéral. La présente Cour a établi que le caractère adéquat se mesure en déterminant si la règle étatique est fermement établie et régulièrement suivie. Une ...
Jones, S. (Contributor), Helfter, C. (Creator), Anderson, M. (Creator), Coyle, M. (Creator), Campbell, C. (Contributor), Famulari, D. (Creator), Di Marco, C. (Creator), Van Dijk, N. (Creator), Tang, Y. S. (Creator), Topp, K. (Contributor), Kiese, R. (Creator), Kindler, R. (Creator), Siemens, J. (Creator), Schrumpf, M. (Creator), Kaiser, K. (Creator), Nemitz, E. (Creator), Levy, P. E. (Creator), Rees, B. (Contributor), Sutton, M. A. (Creator) & Skiba, U. M. (Creator), NERC Environmental Information Data Centre, 1 Jan 2017. DOI: 10.5285/7e6e6955-a9d7-4f8a-961e-3fa3d56d0ead, https://doi.org/10.5285%2F7e6e6955-a9d7-4f8a-961e-3fa3d56d0ead. Dataset ...
While its been a disappointing couple of years for Pfizer shareholders torcetrapib was always the light at the end of the tunnel. Can they persevere in its absence? The company has, though belatedly at times, attempted to press all the right buttons: back in April 2005 it suggested it was open to change and that it would save $4 billion by 2008; this past summer an overdue management shake-up saw the elevation of Jeffrey Kindler, a relative outsider, to CEO; its R&D show had analysts in a forgiving mood, enjoying the newfound "transparency and accountability" from Pfizer management even while at the same time acknowledging the company had significant business development goals to accomplish if it were to return to growth after a flat 2007-8 ...
George B Carey, Stephanie Kazantsev, Mosmi Surati, Cleo E Rolle, Archana Kanteti, Ahad Sadiq, Neil Bahroos, Brigitte Raumann, Ravi Madduri, Paul Dave, Adam Starkey, Thomas Hensing, Aliya N Husain, Everett E Vokes, Wickii Vigneswaran, Samuel G Armato, Hedy L Kindler, Ravi Salgia ...
Assembly of the Cdc45-Mcm2-7-GINS complex in human cells requires the Ctf4/And-1, RecQL4, and Mcm10 proteins Jun-Sub Im a,1 , Sang-Hee Ki a,1 , Andrea Farina b ...
MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6, also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6, is related to rapadilino syndrome and baller-gerold syndrome, and has symptoms including myalgia, muscle cramp and facial paresis. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 is DNA2 (DNA Replication Helicase/Nuclease 2), and among its related pathways/superpathways is Cytosolic iron-sulfur cluster assembly. Related phenotypes are progressive external ophthalmoplegia and limb-girdle muscle weakness ...
Large plaque parapsoriasis (also known as "parapsoriasis en plaques") are skin lesions that may be included in the modern scheme of cutaneous conditions described as parapsoriasis. These lesions, called plaques, may be irregularly round-shaped to oval and are 10 cm (4 in) or larger in diameter. They can be very thin plaques that are asymptomatic or mildly pruritic. Large-plaque parapsoriasis is a common associate of retiform parapsoriasis, can be accompanied by poikiloderma vasculare atrophicans, and can in rare occasions be a precursor to cutaneous T-cell lymphoma. Parapsoriasis treatment consists primarily of light therapy (more specifically PUVA therapy or UVB therapy) possibly in combination with topical steroids. Large plaque parapsoriasis is usually a chronic condition that needs long-term treatment. List of cutaneous conditions Mycosis fungoides Kikuchi, A.; Naka, W.; Harada, T.; Sakuraoka, K.; Harada, R.; Nishikawa, T. (1993). "Parapsoriasis en plaques: its potential for progression to ...
Hendifar AE, Petzel MQ, Zimmers TA, Denlinger CS, Matrisian LM, Picozzi VJ, Rahib L, Tuli R, Wolpin B, Hidalgo M, Ryan D, Hingorani S, Chiorean EG, Coveler A, OReilly E, Balachandran V, Simeone D, Lowy A, Fanta P, Kurzrock R, Reid T, Ko A, Collisson E, Tempero M, Kindler H, George T, Trevino J, Vonderheide R, Beatty G, Picozzi V, Mandelson M, Wang-Gillam A, Hawkins W, Fleshman J, Hingorani S, Maitra A, Manax V, Matrisian L, Picozzi V, Simeone D, Precision Promise C. Pancreas Cancer-Associated Weight Loss. The oncologist. 2019 May;24(5):691-701 ...
Genetic information processingDNA metabolismDNA replication, recombination, and repairATP-dependent DNA helicase, RecQ family (TIGR00614; EC 3.6.4.12; HMM-score: 39) ...