Authors: Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, Sudo A, Noda S, Hidaka Y, Hirabayashi K, Imai H, Kurokawa T, Koike K.. Bardet-Biedl syndrome (BBS) is a rare heterogeneous autosomal recessive disorder characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, hypogonadism, learning disability, and renal anomaly that are caused by ciliary dysfunction. 16 genes have been associated with the BBS phenotype. Although recent pathophysiological studies using animal models have shown that ciliary dysfunction may induce hydrocephalus, there have been no reports of BBS with intracranial hypertension. We here describe a 9-year-old Japanese girl who was diagnosed as having BBS and later received renal transplantation due to chronic renal failure. She also exhibited intracranial hypertension, including papilledema and increased intrathecal pressure (260-300mmH2O), but her brain magnetic resonance imaging was normal. No genetic abnormalities were detected by DNA chip analysis ...
Genetic testing for 16 genes associated with Bardet-Biedl syndrome (BBS), a condition characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities.
Purpose: Bardet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive inherited disorder with clinical features that include retinal degeneration, obesity and developmental anomalies. At least 17 BBS genes have been reported. Seven BBS proteins form a molecular complex known as the BBSome, and three additional BBS proteins form a second complex known as the BBS chaperone complex, which is required for BBSome assembly. Studies suggest that mutation of a novel centrosomal protein, CEP290, results in BBS and other ciliopathies. The purpose of the current study is to characterize physical and genetic interactions between CEP290 and other BBS genes, and determine whether these interactions likely contribute to BBS-like symptoms using mouse models.. Methods: We evaluated the physical interaction between CEP290 and other BBS proteins by immunoprecipitation and tested whether this interaction is required for the correct cocalization of CEP290 using immunofluorescence microscopy. To determine ...
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS genes identified to date, which account for ~70% of affected families. We have combined single-nucleotide-polymorphism array homozygosity mapping with in silico analysis to identify a new BBS gene, BBS12. Patients from two Gypsy families were homozygous and haploidentical in a 6-Mb region of chromosome 4q27. FLJ35630 was selected as a candidate gene, because it was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10. We found pathogenic mutations in both Gypsy families, as well as in 14 other families of various ethnic backgrounds, indicating that BBS12 accounts for approximately 5% of all BBS cases. BBS12 is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of
An autosomal recessive disorder characterized by retinitis pigmentosa; polydactyly; obesity; mental retardation; hypogenitalism; renal dysplasia; and short stature.
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
Do You Have Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity? Join friendly people sharing true stories in the I Have Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microceph...
With the electrods placed at retina tissue the vision cortex of brain is stimulated.This is called bionic eye. First experiments started with 16 electrodes than the number of electrodes were increased to 60.There is a hope that if the number of electrods will be increased to 80 vision might get better either.. Except the system placed in the eye,with the help of a video camera put into the glasses images are taken and are moved with a cable to the electrods. It is reported that this camera system can only be used in hospitals,its not possible yet to use it outside. When the patient with bionic eye has to make rapid head movements the eye can perceive the new image only 10-15 minutes later.Briefly,the adaptation process takes too long.. 4- What type of vision can provide bionic eye? ...
Misdiagnosis of Mental retardation - epileptic seizures - hypogonadism - hypogenitalism -microcephaly - obesity including hidden diseases, diagnosis mistakes, alternative diagnoses, differential diagnoses, and misdiagnosis.
A major focus of the lab is the study of the primary cilium, a once-obscure cellular organelle that has recently been "re-discovered" for its role in a number of signaling pathways (Hedgehog, Planar Cell Polarity, PDGF,..). Most fascinatingly, molecular defects in cilium biogenesis lead to a variety hereditary disorders (so-called "ciliopathies") characterized by retinal degeneration, kidney cysts, obesity, polydactyly, randomization of left-right asymmetry, etc. Our goal is to characterize these ciliopathies at the molecular and cellular levels using state-of-the art proteomics and microscopy. Our approach has already proven successful in the case of Bardet-Biedl Syndrome (see figure) and led to the discovery of a protein complex involved in vesicular transport to the primary cilium. ,nonwikionly,,a href="http://www.openwetware.org",,img src="http://openwetware.org/images/9/96/02_JoinOpenWetWare.png" border=0/,,/a,,/nonwikionly, ...
Bardet Biedl Syndrome (BBS) is a complex disorder caused by cilia, the hair-like structures in many cells, malfunction. People with BBS may have extra fingers and toes, kidney failure, learning or developmental differences, obesity which is due to never feeling full or sated, and a progressive type of retinitis pigmentosa that starts in early childhood. There are at least 20 different genes that can cause BBS. Because vision loss is progressive in this condition, children should be monitored closely to be sure their teachers and friends know what they are seeing and when they might need accommodations. There is a lot of research going on in the Drack Research lab and the WIVR into why people with BBS lose vision and how to slow, prevent or restore it.. Genereviews: Bardet-Biedl Syndrome ...
Researchers at the Johns Hopkins Medical Center in Baltimore, Md, experimented with both humans and animals and isolated the BBS4 protein, which has an indirect link to obesity.A genetic mutation in the BBS4 gene causes what is known as Bardet-Biedl syndrome?a syndrome that can cause obesity, learning disabilities, eye and kidney problems, and disruption in the bodys cell transport, which can result in cell death. Under normal circumstances, this protein transports molecules that guide the action of the cells internal transport system, which moves other proteins, cellular packages, and chromosomes. When the BBS4 gene is mutated, or not working properly, cell division stops and the cell dies. The way this particular protein affects obesity will require further study. ...
Cilia are antenna-like membrane-associated structures which play essential roles during development, and during the normal function of many cells throughout the body. Dysfunction of these organelles can lead to serious illnesses, involving deafness and blindness, as well as life-threatening complications such as kidney and liver disease, diabetes, respiratory problems, and obesity. These so-called "ciliopathies" are usually genetically inherited, and at present there are few, if any cures.. Following collaborations with Phil Beales (Institute of Child Health, UCL) on Bardet-Biedl Syndrome, and with Jan Marshall (Jackson Labs, USA) on Alström Syndrome, we are continuing to work in the field of human ciliary diseases. In collaboration with Colin Johnson (University of Leeds) we more recently characterized the role of the Meckel-Gruber Syndrome protein TMEM67 in the development of the cochlea.. In related public engagement projects I have worked with patient support groups such as Alström ...
Primary cilia, once considered vestigial organelles are now revealing themselves as crucial cellular components for cellular signalling and are capable of sensing their enivronment. A number of developmental pathways including Hedgehog and Wnt signalling require an intact cilium. Dysfunction of this signalling process can result in diseases of the retina, kidney, endocrine system, skeleton and nervous system. Many long described syndromes are now being ascribed to cilia pathogenetic lesions are are grouped as the ciliopathies. Many of these syndromes manifest cognitive impairment as well as disordered peripheral nervous system and sensory reception. We have been focussing on several of these diseaes and one in particular, Bardet-Biedl syndrome has been informing us of novel roles for the primary cilium. For example by generating animal models we have determined there are defects in olfactory responses, nociception, satiety (leading to gross obesity) and mental retardation. One of our key goals ...
MORM syndrome is an autosomal recessive congenital disorder This means that the disorder is present from birth and is likely the result of both healthy parents passing on a defective gene, associated with MORM syndrome, to their offspring. The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder. The term MORM is used to describe the characteristics associated with the disorder which include mental retardation, truncal obesity, retinal dystrophy, and micropenis". The disorder shares similar characteristics with Bardet-Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders. MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age. The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. Further mapping resulted in the identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic ...
Katsanis N et al. (1999) Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.. ...
Retinitis pigmentosa (RP) is a disease that leads to degeneration of the rods and cones of the retina; it is one of the leading causes of inherited blindness.. Symptoms may appear at adolescence, but severe vision problems do not normally occur before early adulthood. In the early stages of the disease, people with RP experience loss of night vision and more difficulty seeing in low-light conditions. As the disease progresses, RP sufferers begin to lose peripheral vision and develop tunnel vision. In the most advanced stages, a person with RP may become completely blind.. Other forms of RP and related diseases include Usher syndrome, Lebers congenital amaurosis, rod-cone disease, and Bardet-Biedl syndrome, among others.. ...
Keira Jones-McCarthy was born with a swollen abdomen, two additional fingers and bladder problems before being diagnosed with Bardet-Biedl Syndrome
In the clinic, fundoscopic examination of the eyes should be performed through dilated pupils as well as blood pressure measurement and urinalysis for glucose, protein and leukocytes. Baseline investigations should include ERG/VER, ECG, echocardiogram, ultrasound of the kidneys and urinary tract and either an IVP or DMSA/DPTA scan. The child should be evaluated by cardiology, ophthalmology, urology, nephrology, genetics, speech, endocrinology, and orthopedics. It is not possible to cure this condition, but regular follow-up for symptoms can improve quality of life ...
Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.. [^] ...
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
Free Online BBA BBS BCA Preparation Test and Practice Sets & Study Materials Includes Questions on C/C++,Operating Systems,Computer Science & Basic Tests, MS Words 2007 Featured Tests Latest Tests - Page 1
Day 14 I just wanted to pop in real quick because Im so ****ing happy!!! Im up 9 pounds since the start of this cycle! Weighed in 164, started at
Im a little perturbed that until this moment, Id never realised that the endings of The Godfather III and Watership Down were ...
Whether it looks like a random plan or not, understand that those people had chosen, in their life plan, to undergo the situation. 无论它看着像一个随机的计划或者不是,理解这些人的选择,在他们的生命计划中,状况的经历。 bbs.awaker.net ...
Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation. Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and renal failure in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such. Eyes: Pigmentary retinopathy, poor visual acuity, low vision, and/or blindness caused by an impaired photoreceptor transport mechanism in the retina. Nose: Loss of, or reduced sense of, smell (anosmia). Some patients claim extra-sensitive sense of smell. Hand and foot: Polydactyly (extra digits) or syndactyly (webbing of fingers and toes). Cardiovascular system: Hypertrophy of interventricular septum and left ventricle and dilated cardiomyopathy. Gastrointestinal system: Fibrosis. Urogenital system: Hypogonadism, renal failure, ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
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Many syndromes feature pigmentary retinal changes consistent with RP. In fact, some of the genes known to be mutated in these syndromes can be mutated in patients with isolated RP. For example, BBS3 and BBS9 are linked to Bardet-Biedl syndrome (BBS) which is characterized by RP, obesity, polydactyly, renal malformation, and hypogenitalism, but were also found to be mutated in patients with nonsyndromic RP. Other syndromes known to manifest with RP or RP-like lesions include Usher syndrome, Cohen syndrome, Cockayne syndrome, Refsum syndrome, neuronal ceroid lipofuscinosis, and abetalipoproteinemia. ...
Symptoms of the following disorders can be similar to those of Froelich syndrome. Comparisons may be useful for a differential diagnosis:. Prader Willi syndrome is a complex disorder affecting many systems in the body. It is diagnosed more often in males born after a prolonged, delayed birth often in the breech position and is characterized by muscular weakness and failure to thrive during infancy. As the child grows there is a decrease in the function of the testes or ovaries (hypogonadism), short stature, and impaired intellectual capabilities. The need to eat an extraordinary amount of food (hyperphagia) usually develops between 1 and 3 years of age. If left uncontrolled, the obesity of Prader Willi syndrome can lead to life- threatening heart and lung complications. (For more information on this disorder, choose "Prader Willi" as your search term in the Rare Disease Database.). Bardet-Biedl syndrome is a rare disorder affecting many systems in the body. It is inherited as an autosomal ...
Keywords: Inherited eye disease, Bardet-Biedl Syndrome, X-linked retinitis pigmentosa (RP), Incontinentia pigmenta, Familial exudative vitreoretinopathy (FEVR) ...
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011 ...
With the electrods placed at retina tissue the vision cortex of brain is stimulated.This is called bionic eye. First experiments started with 16 electrodes than the number of electrodes were increased to 60.There is a hope that if the number of electrods will be increased to 80 vision might get better either.. Except the system placed in the eye,with the help of a video camera put into the glasses images are taken and are moved with a cable to the electrods. It is reported that this camera system can only be used in hospitals,its not possible yet to use it outside. When the patient with bionic eye has to make rapid head movements the eye can perceive the new image only 10-15 minutes later.Briefly,the adaptation process takes too long.. 4- What type of vision can provide bionic eye? ...
Eesti Teadusinfosüsteem koondab informatsiooni teadus- ja arendusasutuste, teadlaste, teadusprojektide ning erinevate teadustegevuste tulemuste kohta.
Perception of what is occurring around us relies extensively on our senses, such as vision, smell and touch. Among these, vision attracts remarkable attention. The abilit..
Virology Highlights features highlighted articles published in Virology, with posts summarizing the research in the authors words.
A mutation in the tub gene causes maturity-onset obesity, insulin resistance, and sensory deficits. In contrast to the rapid juvenile-onset weight gain seen in diabetes (db) and obese (ob) mice, obesity in tubby mice develops gradually, and strongly resembles the late-onset obesity seen in the human population. Excessive deposition of adipose tissue eventually leads to a twofold increase of body weight. Tubby mice also suffer retinal degeneration and neurosensory hearing loss. The tripartite character of the tubby phenotype shows striking similarity to human obesity syndromes, such as Alstrom and Bardet-Biedl. Here we report the identification of a G --| T transversion in a candidate gene that abolishes a donor splice site in the 3 coding region and results in a larger transcript containing the unspliced intron. This alteration is predicted to replace the 44-carboxyterminal amino acids with a 20-amino-acid sequence not found in the wide-type protein. Additionally, a second, prematurely
Intraflagellar transport (IFT) is essential for assembly and maintenance of cilia and flagella as well as ciliary motility and signaling. IFT is mediated by multisubunit complexes, including IFT-A, IFT-B, and the BBSome, in concert with kinesin and dynein motors. Under high salt conditions, purified IFT-B complex dissociates into a core subcomplex composed of at least nine subunits and at least five peripherally associated proteins. Using the visible immunoprecipitation assay, which we recently developed as a convenient protein-protein interaction assay, we determined the overall architecture of the IFT-B complex, which can be divided into core and peripheral subcomplexes composed of 10 and 6 subunits, respectively ...
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The BBS02 has been solid since I put it back together. Theres a bit of vibration which is due to my non-ideal chainline ( really need to drop to a lekkie to get the chainline going right ). In the interim, Ive built a non powered rigid 29er out of spare parts and someone elses failed build project. Paid AUD $300 for a mostly complete 29er bike with deore 2x10 ( all new ) but they couldnt get their shit working right. Built it up and am cruising the streets on that if Im not on the ebike. Turns out the guy used the 1mm spacer that comes with a 10 speed setup ( for fitting to a 9sp hub)... which you dont use on a hub designed for 10 speed... the 11t was slipping like a madman until I removed it.... Someone elses non google-fu is my benefit. The new rat bike came with a Mosso M5 fork which is a horrible peice of shit... even for a rigid fork... I have a carbon fork on the way while waiting for a deal on a good suspension fork. The Mosso M5 flexes like a bitch... do not buy. Ive done a day of ...
Buy our Recombinant Human BBS10 protein. Ab164093 is a full length protein produced in Wheat germ and has been validated in WB, ELISA. Abcam provides free…
Pro life: Well what would you expect from a generally progressive series? Oddly though, ST in general is pretty critical of most biological...
All this poll shows is that a large percentage of people dont listen to the questions they are asked. Thats a basic problem of streets surveys. You...
Nostalgic for the pre-Internet 80s? A former teen BBS-junkie attempts to archive the evanescent history of digital culture on the Web. By Joe Nickell.
From UniProt:. Nephronophthisis 4 (NPHP4): An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. [MIM:606966]. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among ...
in San Diego. There were thousands of attendees, including many of our funded investigators as well as a few of us from NIGMS. As a new program director, I enjoyed meeting many of the grantees and applicants Ive talked to on the phone or by e-mail. I met a few others, too, who stopped by the NIGMS booth to get information on funding opportunities.. I cant even begin to come up with an exhaustive list of all highlights from the 5-day program, so I will share just a few.. I was most excited about how discoveries made using "simple" organisms, such as yeast and unicellular algae, are informing models of human disease in new ways. For example, studies of centriole biogenesis and cilia formation in invertebrates have provided a mechanistic understanding of human ciliopathic disorders such as Bardet-Biedl syndrome. Interestingly, the relationship between human disorders and basic research is a two-way street: By doing a genetic analysis of plant and invertebrate orthologs of genes mutated in people ...
Looking for online definition of BBS5 in the Medical Dictionary? BBS5 explanation free. What is BBS5? Meaning of BBS5 medical term. What does BBS5 mean?
Examples:. You consult the SCCo Packet Tactical Calls bulletin and determine that the primary and secondary BBSs used to receive SCCo Packet Net Check-ins are W2XSC and W4XSC, respectively.. Example 1: It is the first Monday or Tuesday of the month. Your primary BBS is W1XSC. Therefore, your BBS is simulated down and you cant use it to send a message. The recipients BBS (W2XSC) is unaffected. So, you connect to your assigned secondary BBS to send your message to [email protected] or [email protected] Example 2: It is the second Monday or Tuesday of the month. Your primary BBS is (W1XSC) is unaffected. The recipients BBS (W2XSC) is simulated down so it cannot be used to receive check-ins. Therefore, check-ins will be received on the secondary check-in BBS (W4XSC). So, you connect to your assigned primary BBS and send your message to [email protected] or [email protected] Example 3: Is is the second Monday or Tuesday of the month. Your primary BBS is W2XSC. So your BBS is simulated down. The recipients ...
BBS6 antibody Rabbit Polyclonal from Proteintech validated in Western Blot (WB), Immunofluorescence (IF), Enzyme-linked Immunosorbent Assay (ELISA) applications. This antibody reacts with human,mouse,rat samples. Cat.No. 13078-1-AP.
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