9 research outputs found

    Mediterranean chromosome number reports - 23

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    This is the twenty-three of a series of reports of chromosomes numbers from Mediterranean area, peri-Alpine communities and the Atlantic Islands, in English or French language. It comprises contributions on 56 taxa: Anthriscus, Bupleurum, Dichoropetalum, Eryngium, Ferula, Ferulago, Lagoecia, Oenanthe, Prangos, Scaligeria, Seseli and Torilis from Turkey by Ju. V. Shner, T. V. Alexeeva, M. G. Pimenov & E. V. Kljuykov (Nos 1768-1783); Astrantia, Bupleurum, Daucus, Dichoropetalum, Eryngium, Heracleum, Laserpitium, Melanoselinum, Oreoselinum, Pimpinella, Pteroselinum and Ridolfia from Former Jugoslavia (Slovenia), Morocco and Portugal by J. Shner & M. Pimenov (1784-1798); Arum, Biarum and Eminium from Turkey by E. Akalin, S. Demirci & E. Kaya (1799-1804); Colchicum from Turkey by G. E. Genç, N. Özhatay & E. Kaya (1805-1808); Crocus and Galanthus from Turkey by S. Yüzbaşioglu, S. Demirci & E. Kaya (1809-1812); Pilosella from Italy by E. Di Gristina, G. Domina & A. Geraci (1813-1814); Narcissus from Sicily by A. Troia, A. M. Orlando & R. M. Baldini (1815-1816); Allium, Cerastium, Cochicum, Fritillaria, Narcissus and Thymus from Greece, Kepfallinia by S. Samaropoulou, P. Bareka & G. Kamari (1817-1823)

    A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

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    The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is essential for the structural organization of myelinated fibres and is primarily mediated by the binding of CADM3, expressed in axons, to CADM4, expressed by myelinating Schwann cells. We have identified - by whole exome sequencing - three unrelated families, including one de novo patient, with axonal Charcot-Marie-Tooth disease (CMT2) sharing the same private variant in CADM3, Tyr172Cys. This variant is absent in 230 000 control chromosomes from gnomAD and predicted to be pathogenic. Most CADM3 patients share a similar phenotype consisting of autosomal dominant CMT2 with marked upper limb involvement. High resolution mass spectrometry analysis detected a newly created disulphide bond in the mutant CADM3 potentially modifying the native protein conformation. Our data support a retention of the mutant protein in the endoplasmic reticulum and reduced cell surface expression in vitro. Stochastic optical reconstruction microscopy imaging revealed decreased co-localization of the mutant with CADM4 at intercellular contact sites. Mice carrying the corresponding human mutation (Cadm3Y170C) showed reduced expression of the mutant protein in axons. Cadm3Y170C mice showed normal nerve conduction and myelin morphology, but exhibited abnormal axonal organization, including abnormal distribution of Kv1.2 channels and Caspr along myelinated axons. Our findings indicate the involvement of abnormal axon-glia interaction as a disease-causing mechanism in CMT patients with CADM3 mutations

    4

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    THE GETEZEAle J. F. Parkinson, Owner and PuMUhcr. OsVe in th* Parkinson Building, Cr.i iwrsltr Artmne. Palo Alto. < alilnmia. lesrKD EVERY SATI'RDAY. Telephone Main 40. WHO'S VOUR Hm*ND> I tenden, ath* part nl nst-st m*a ^^^^^^^^^^^ |-t-**iril Ih* e-.tal-ii.lnsl l-a-sl new-pa [**r ■a their frirr-d. Tt**.- ■*■****> diaprtsi-d. ( r-aUwr. lo -.»* ti|".T. tl.- **tit... * pul. llebttr as an Indiridusl who ha. m -thrr purpose than tn tto what people want ; him ta do. Who Is -j*lisllr.rt.. writ* [ thins* that In* wants others m resit and i wh" I* eipeet*.! tn ht** tn-m hand to •ao-ith **td suffer in ■*-*d#*r tliat others assy ta*mt it* r nl th** interest nn th* •ufa-cripi-on* that it*** uww. II* ia lc*-tod U|a*n as a maa shner inntienee le-t-ft-th su.net h me il you list.- bought U; a* a man vim is tickled tn death to r*c*\\- tickets lo th* pink less In •»«- ehamrr -r Ir**. notie-w; as a man who nay I* blsrns-I lur anything an.l every thins ***■■ *■••** •» *"* disappointed il he ttaT-sr gets t-n-dit far til* go**- thai lie li»* ■'. Bat ther* i* an. it her war lor tbe ad- -rat-iss-r to look at th* local •*•*-*•> paper aad the individual wl." «p*n 1* ni,*»i nl hi* Urn* ami all hi. MMJ in Ids effort to PORin-ssr the tittle craft a.-r— the bar ami Into the t-srlMir nf iMt-in*-**-* safaty. Tb* newapapsr t- a prs'ty *-»-.l insti- tutkm alter all. ll Is a constant friend -aj-oa ■t***m yoa rsn and -So rely Mr*>t. laal awl all th* lime. A cwnmunity coaldn't do tr-rfl without ■*•* and il there ian'l a |**ner of ssn* -sari in a town Ihe -*-n«r*l ii.ipt--ssil.tn is Hist thai* is aiislhlm wr.ni tt-t-rri; thai th* inhabitants fear lo m* in th* hiiht of day ; to hat* their neighbor* know of than, or th-ir donm-. ClM-erlally tli* mmbm writ** tlw alt-rays i-reliv st- iy "t the h*n.l**nt* jemsm *o«.an that i- led BB Ih* alUr: h* chromeles the tart thai "the r-r-u- trartins |*rti**" lisve ****** *" h**.t*-«- ki-rpiiik'. tw write- np the first party ther give; h* annnnm-rs in ghvlsoiiw typ* In -lu*- tba* tlml "John is pasaing theeki-Bis; ita a boy;*' later llienr- i. a John t* i*reha-ia*-- an advertiser in The Cssrir-n an.1 Hie editor writea tlte c-u- taM-iarr "puff" which mate- John tt-el gotta ami which has the efli ing Jidm's l-t-juner*; hr an* patient sileorhis.Urllnai'liiUI Is railed to "Uiat lamrn from which no traveler MlaraSth" snd then it I- tln-edito* *il„. c-itnea to llie ftsmt with tli* funeral not-c-s ami llw ..l-ttuary in which h* offer* tlie *-«-**-*d*tino ol *" entire i-»*i*-h- horh-aal: he rtrew* hit rsn rloaera .-Tee tb* .lead one's grave aad rear* a m ■ -nu - ment that has Ibe eHt*rt -I ins knit, each ,-„! ,-t* rt one forget thai tile .leceased ever had anv fault *-.rtli niii.iiil-riiii.*. Hr U an a.iirel who i- OfSf -Ma* maod~ or trying to. Then, how -train."' it i» that ill*"** !■ a dlap.--.lii'>!> on tlw part »l to manv of the people at,.-an* in I-tuni*-. th* It-gitimate aewspapee V-nks lor iwlrn-tac* ami ready I" i I- Jol.tl . atand i In fakir -ehrltie ^8 YOU'RE ALWAYS SAFE No danger from fire or explosion if you li.tve un INSURANCE GASOLINE STOVE in your kitchen They're absolutely -mfe-of course other manufacturers claim thi- fur their stove-, but once you have the principle of thi*. stove explained to you. you will agree with iir- that it ;- the only absolutely safe gasoline stove. We might fill this whole space in explaining the many good feature-* of this stove hut the principal one among them in rr is ABSOLUTELY ^ SAFE If you will step into our store and bm one in operation yuu will say that it is "just right" J. F. Parkinson Company We Want Your Business" - - PLUMBING - M1LLW0RK 4 •frst-iniel-i, lo illegtti-iiBte -nil.|i,-s1i..ii-; ;' ' ' * ' who tsel im shame st doing sll tbey can lho.-ght si l„ng distt tn s-i-i in sllowinu the li-I.er .if tlw ■ hat most 0- o- are si lueal ali.-*-t !■■ starve lo.le*Hi tlit*rs-s a« mer-* ti.iii.i* Tb* WH basal, tlw p-ngrani. the tele- j -,,. dnj «ir«»lt« ,-,, phone i-de dii-rctory. ttw- carl in lb* I ,*,,„,,. „f (hen*!. SI port'-cnrt-. the l*oc* taianl. the p*Per-1 Uml-. -»tha|w »f taarlie iiiac-*r tltal ritles llie na.t. llWj^r, j„ (),^ „rl| ,, but*) dirrrtorj". llw t-U—i-ovr.-rsl .sr.l- p,w„i,*v „ •„,,-,., t that .li.iiitnn- the WsAei -I Imim—mn *bsoom are that wi :-. . -1* ii-Hiii Kt-tsiuetitly may be able to art ua insttet eventually, tur infancy. ' friend in a crowd. Hut the-w acienliat* "iltiurs. Uranson m tHbty, alio ba**| aiabi on im. r.'i-.'tiiiy i-iitiipli-ti-l o!i.--,; *in- "Mitch lo I i science lap- ; IJltlc" cotU|-t-s at tin- coiner ol Kipling; •ml* in Its.and Kvrirvtt. Tbey are convinced; ^H beyond doubt tbat I'alo Alto ptrnple HO ' I..ng ago tb* *-*opl* sroflnl ai tbe .re**l Tb* Citisen and t-ead it ritbt. man wbo proposed to baild an srfc :' 1 later the man wbo pn.ii-*-**d to di-acut-cr All kintla of pasaibJUlicB l«»h op when ' (\ Anient** srna tlie laughing stock of one i-rada t4 the invention ol a Hind, one .% i-oysltii-s. Ibe slatement that a iiischme .Jnip ol which plsued in s ■*!«" .,t ..i.ii- .! Hiiuiil tf meg* p. nr, tnanv more time*, naiv -s.u-r transtorms that natt-t into: ^*abja*s**ss**e****^ IRRIGATED UNDS IN STANISLAUS COUNTY . Another Chance X..1 ,. .,1 thu ti.l ul,,. oltlK ^sswmmsmwmwmmm ein.-i in ■■- tins*.* fakes can Is' I immmmy. tsfl ol lb* sr.itBl ,4 th bcaine.n.c Iwhv far/, cive th* !■*»« that .. > da-stir-**-! la call altenli-fi t- *mu **l. 1 tbe grave ol osw yaa We . li V!:, till 1 it.- lbs that 1 J -ttiitlt' tltsti a woman could sew wn* mind I '"'"'' • ''"' steam engine and the rail- -.1 to '""' ""'l *■''''' " '""•' *•""* ITola-aesI : Hli, -' With the tr-lr--rai.il. the cable, the I "' I submarine tawt. ami tinall* tit* airship: these' DUt lnc l'rt**ent pntrs Ihe iallacy ol tbe fc^ refusal of tlw -.art t-> enieiiain lite i-lra- |.ii! foiwanl l-y tin- thinker. .*! ibe age. Wc it-It still > v be ll .i In ild I 'inality of ttcrr. lU-.-i ' Just thiukof III Oueounc-aof the ,|..,a- is ill ami malt kind. .\s uaual with anything' of tlw l-eer nsture tbe intenti-m come* from Wisconsin. The i-omratattce rainfall lahle pre* jjwretl by J. A *-'Piir-* and published, escluslvi-ly in The ftti-fli liwl sittk, ft. F. HALL IS NOW INVESHGATING THIS SPLENDID AGRICULTURAL SECTION AND IS LISTING SOME GOOD THINGS. PALO ALTO REALTY CO. Tbe Hlot.ght.gTlt i„l..,l : "worry" in rer'aiti ipiarlen here* ..l.-iil* U-eai't-.- oi tlw splendid victory J tbat luu been «<m by iln* Jaw;.---.* Tht -oo-wr telep- ' navy and the "'likelihood** lhat the Jap*- I** a stienca- sod j will bow ppxeed to ran over to Attic-*-.--* e may all tnak,* M* and "make •lavt-a .if all tl,.- -.lilies. " :« it-Eli the ■-—ilnlllv uii-AmeHcan. itii|«lriotic and unw.irthv is line ,„o.t .Hike; tb.-es)ircsaio.i of any *H-r*,-n who ha- nl sli-t'1-h.iMer* mid ismlldeni'e in tin- Rtorioos Hats and :>- aril* and ainlaM --.tii--- and tlw noble k-ovt-rmnent nt ^^^^^^^^^^^^^^^^^^^^^^^^^^^ hoiie cumpsniea l( Waahinston. Ja**n li*srm*.l all it knows Ret I.-**. .-I lt*vi*w- ti.,. -artttm ol i!»* teh-path* t-ttsaaa lata «**- then- trill lw froni Aiii-ru-a: tlw pupil In this insuttce oncer*. *.( .. te-i ■■-. a d;.*at-.-.- cd MO no i-etd lor Ih* prc-scnl -)ui.-k ni-amaal* » m*l greater or more lewrm-d than its mtts* in whleh Iw hii-**#-*lt l-k I*>- •*ati.*a apparatus, -slartlier material or tewher. No [alnotw vankess will enter- Btlfa cr-i-lerti-c ».«|H la--it *n W an*i*rt-*-*-*»oitnal-*n*l: tlw-lfhla will lie flying tain ""yellow peril" fo-vl.-litur* tn (be etsi.** of llw !>•** iw»aiwt--i ett-rt-.lie..- alsMt the cmnuy and amman It wnnht I tlw • !all.-i > Isle lagers I TE1_EI»ATHV Kalnrally d'-ol-i e\t*i- m • Mat- 31, goes to show thai many pereona aisl aotnelinwts rs' loiget. It was' Ireely stated on tbe street »ad In crr- tain newspsprrs that no in.lanc-e had b.*en known fur a d-*c*>V oi more a here ruin Ml so lute as May ">'.. A Sunnyvale kid loltowtd the Unit sprinkling wagon the lown has ever hail' a diaUncr of lour ■■■.■*■■ ID tell the driver llw water was spillin,-. And .till l-s.).je wonder where artists gel their il-w lor the ridiciil-.u. thin*-* thatap- t JOHN F. BVXBEE and B. F. HALL. Manager 6- '•A1*^***.. ■-*. «•**• **e*i*km,*,*m*»*^**,^'*a**>*r*t % V*W-a,a-*Sa*** tastsrt.aSjjIsQ .l...p' ,-n-doct littai the north. But ,|„tt. ,IP ^^ the really Is-sl ailviiv on tin- lieer proj-o- )KV<n(UC •■„, wort. -^ . ■ her e.1 there Th.- Baa .Mateo Tim,-, prints an article headed: "Where to look lor Moxpiitnes." It is pleasing tu learn that the little devils are gettin-- so scare* tliat neck ol the woods. that if Sli**d albn-ugboul tbe world- there will Is* I ,il,i> ild . mon* or teas would n* hie hundred and lllty callei- on ^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^ mlav aud sisty llw Monday altermsm distam-i- of 7iatl oi-crator*; un uniona; no trusts. The iolln-tin-: is tlie score reaulttng from a ■r nl a few nul-** only troubk aill he to select the lues-j readiiig notice in last Saturday's tatuc I ueial .-titer into sage that t. sent or to Und one's thought-' ol Tli* Ciliien. This iwpott ;• made by , ihe r advi Naturally. » The Cll nig on the subject, it would rtH-ommoml that those ot its readers who DO drink beer, make an effort to obtain tbe "open deaths liave past month. ^^^^^^^^^^ thing fi-rree oo the boards then ever t' ^^^^^^^^^^^^^^^^^^^^^^^ ■tittv tbat erase fellow climl-ed tlie flag pul,., Parkinson Sells Shavini**- • rmctt thing on earth for stable San Mateo was forty years gi-tling Is-diling or for tbe cbildnti to play in— .loan to actual airi-i'iiiupro.-.-im-iii **ork only t)l.;,'. ]Hir load delivered. Lesva «Int-li ha* been lu progress a mstter nf orders at the hardware store—-'phone two or ihree weeks, and now the '-apcr, Slain lt»

    Search for leptoquarks in Z0^{0} decays

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    We have searched for direct leptoquark production in Z 0 decays from a scan of the Z 0 resonance, in the energy range 88.2 ≤ √s ≤94.2 GeV, using 5.2 pb -1 of data. We exclude the existence of scalar leptoquarks with masses less than 41 to 44 GeV, depending on the charge assignments, at the 95% confidence level

    A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

    No full text
    The CADM family of proteins consists of four neuronal specific adhesion molecules (CADM1, CADM2, CADM3 and CADM4) that mediate the direct contact and interaction between axons and glia. In the peripheral nerve, axon-Schwann cell interaction is essential for the structural organization of myelinated fibres and is primarily mediated by the binding of CADM3, expressed in axons, to CADM4, expressed by myelinating Schwann cells. We have identified—by whole exome sequencing—three unrelated families, including one de novo patient, with axonal Charcot-Marie-Tooth disease (CMT2) sharing the same private variant in CADM3, Tyr172Cys. This variant is absent in 230 000 control chromosomes from gnomAD and predicted to be pathogenic. Most CADM3 patients share a similar phenotype consisting of autosomal dominant CMT2 with marked upper limb involvement. High resolution mass spectrometry analysis detected a newly created disulphide bond in the mutant CADM3 potentially modifying the native protein conformation. Our data support a retention of the mutant protein in the endoplasmic reticulum and reduced cell surface expression in vitro. Stochastic optical reconstruction microscopy imaging revealed decreased co-localization of the mutant with CADM4 at intercellular contact sites. Mice carrying the corresponding human mutation (Cadm3Y170C) showed reduced expression of the mutant protein in axons. Cadm3Y170C mice showed normal nerve conduction and myelin morphology, but exhibited abnormal axonal organization, including abnormal distribution of Kv1.2 channels and Caspr along myelinated axons. Our findings indicate the involvement of abnormal axon-glia interaction as a disease-causing mechanism in CMT patients with CADM3 mutations. A correction has been published: Brain, Volume 144, Issue 7, July 2021, Page e64, https://doi.org/10.1093/brain/awab18

    "Flora of Russia" on iNaturalist: a dataset

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    Background: The "Flora of Russia" project on iNaturalist brought together professional scientists and amateur naturalists from all over the country. Over 10,000 people were involved in the data collection. New information: Within 20 months, the participants accumulated 750,143 photo observations of 6,857 species of the Russian flora. This constitutes the largest dataset of open spatial data on the country's biodiversity and a leading source of data on the current state of the national flora. About 87% of all project data, i.e. 652,285 observations, are available under free licences (CC0, CC-BY, CC-BY-NC) and can be freely used in scientific, educational and environmental activities

    ХИМИЧЕСКОЕ РАВНОВЕСИЕ В СИСТЕМЕ ПРОПИОНОВАЯ КИСЛОТА - ЭТИЛОВЫЙ СПИРТ - ЭТИЛПРОПИОНАТ - ВОДА И ЭКСТРАКЦИОННЫЕ ПРОЦЕССЫ С УЧАСТИЕМ ГЛУБОКИХ ЭВТЕКТИЧЕСКИХ РАСТВОРИТЕЛЕЙ

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    New experimental data on the chemical equilibrium in the propionic acid - ethanol - ethyl propionate - water system at 293.15 K and atmospheric pressure are presented. Chemically equilibrium compositions corresponding to the liquid-liquid equilibrium were obtained by gas chromatographic analysis. Using the method of nuclear magnetic resonance, homogeneous chemically equilibrium compositions were determined and the concentration equilibrium constant is calculated. The surface of chemical equilibrium and the region of splitting chemically equilibrium compositions are represented in the square of the transformed concentration variables. Comparison of the data obtained in the work with the literature was carried out at 303.15 and 313.15 K. It was found that the region of such compositions decreases with increasing temperature, while the surface of chemical equilibrium does not change the shape and position in the concentration space in the temperature range 293.15-313.15 K and atmospheric pressure. Liquid-liquid equilibrium compositions have also been obtained by gas chromatographic analysis for ethanol and ethyl propionate in the pseudo-ternary system using deep eutectic solvents (DES) based on choline chloride and glycerol / urea in whole range of concentration. The analysis of the extraction properties of DES showed the highest efficiency of DES based on choline chloride and urea. Experimental data on phase equilibrium are processed using Othmer-Tobias and Hand models. The calculated correlation coefficient (more than 0.99) indicates a high internal consistency of the experimental data obtained in this work
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