#ccm2

[quotesfrommyreading]

The Bowlin family’s malformation can indeed be explained by a mutation—a newly discovered one. Theirs is a deletion in the gene CCM2, and this mutation is dominant, meaning it does not skip generations and has a 50 percent chance of being passed on. Marchuk’s lab didn’t just find it in Bettina’s donated tissue, though; the scientists also found it in seven other unrelated patients all at the same time in 2007. How odd, Marchuk remembers thinking, to see the identical deletion eight times in a row. But, he says, “we couldn’t see any common ethnic heritage, and those eight families, we couldn’t connect them in any way ourselves.” The deletion happens to occur in a natural recombination hot spot—where DNA gets cut and pasted back together—so he figured it might just have happened independently in those families.

Then things got stranger. More families with the exact same deletion started showing up after the Angioma Alliance began a genetic-testing program for people with suspected CCM mutations. In the first year alone, a quarter of participants tested had the same CCM2 deletion. The affected families lived across the U.S., with the exception of the Northeast, but they were concentrated in the South and Midwest. (The Bowlins are from Mississippi.) “About two years in, I could say that if you live in Oklahoma, and I’m about to test you, I can pretty much predict which mutation you’re going to have. Or if you live in Mississippi, Alabama, Louisiana—same thing,” says Connie Lee, Angioma Alliance’s president. The distribution clearly wasn’t random, which suggested the deletion wasn’t showing up by chance. The families probably were related. They just didn’t yet know how.

In search of a connection, the families and Lee created a Facebook group to share stories and names. They scoured census, birth, marriage, death, and other public records. They took AncestryDNA tests. A professional genealogist even came on board and looked for records in person at the Family History Library, in Salt Lake City. In late 2018, a new family joined whose ancestry allowed the group to link up two family trees. That was a crucial clue.

Over the next few months, the families managed to trace their rare mutation back 250 years to a single North Carolina couple born in the 1760s: Matthew Malachi Rushing and Sarah Mae Harrell. Group members couldn’t test the long-dead couple’s DNA directly, of course, but they could infer from the pattern of inheritance in living descendants. Bettina, Margaret, and Susan are the couple’s great-great-great-great-grandchildren. Their migraines, their seizures, their tingling and weakness in the limbs—it all goes back to the DNA of this one couple in colonial America.

  —  How a Rare Brain Mutation Spread Across America

[gaetaniu]

Come i grandi siti fossili modellano la nostra comprensione delle relazioni evolutive tra gruppi fossili

Visualizzazione della metrica di completezza dei caratteri (CCM2) nella documentazione fossile dei dinosauri teropodi non aviari, degli uccelli mesozoici e degli squamati. Un nuovo studio pubblicato sulla rivista PLOS ONE esplora il peso che i grandi siti fossili hanno sulla nostra comprensione delle relazioni evolutive tra gruppi fossili – l’effetto lagerstätten – e per la prima volta ha…

[dlvjewel]

Petits cristaux aciculaires de Malachite sur Cobaltocalcite du Congo #CCM2 #cobaltocalcite #calciterose #cobaltoan #pinkcalcite #malachite #giftideas #mineralsstore #collectionmineral https://www.instagram.com/p/B55JJQbH4cD/?igshid=m3qpo36q8i5h

[hyperform]

Fire Station #5 - STGM Architectes + CCM2 Architectes

[bestbuycyprus]

DigitMX NETPRO NP-CCM2 1U Cable Management Unit 9cm

[ricvel13]

Diário da República - I.ª Série n.º 188 de 5 de Outubro de 2021

Diário da República – I.ª Série n.º 188 de 5 de Outubro de 2021

DOCUMENTO SÉRIE DATA Iª Série Decreto Executivo n.º 485/21  (Ministério da Educação) i 05/10/2021 Cria a Escola do II Ciclo do Ensino Secundário Pedagógico denominada Magistério n.º 79 CCM2 – Muene Vunongue, sita no Município de Menongue, Província do Cuando Cubango, com 20 salas de aulas, 60 turmas, 3 turnos, e aprova o quadro de pessoal da Escola criada. Iª Série Decreto Executivo n.º…

[richardvarey]

Hooked by a queer fish

This one caught me. I saw it floundering in a box of discarded CDs. The image. “Esoteric” “binuaral recording”. Two Barytons?? Recorded in a London church with DPA 4006 and Schoeps CCM2 microphones in custom Dummy Heads. Each pair of omni’s was ear space apart either side of a foam covered human head sized wooden baffle. That was enough to pique my curiosity. I was hooked. The baryton, I…

[mamirrisimas]

@lopezeli_ https://www.instagram.com/p/CCm2-0xJ2K3/?igshid=qx7aw7xgsk80

[hcbraziliansfans]

I must share with you some pretty arts! . . . Posted @withregram • @nattotwister Yennefer is one fashionable sorceress Isabela 😂 #witcher #witchernetflix #witcher3 #geraltofrivia #geralt #witcheranime #yenneferofvengerberg #cirilla #ciri #fashion #fairygone #witcherflix #netflix #netflixshows #anyachalotra #fanart #witcherfanart #medievalfantasy #artistsoninstagram #instaart #thewitchernetflix #geraldodaribeira #witchermemes #thewitcher #thewitcher3wildhunt #hcbrazilianfans #henrycavill https://www.instagram.com/p/CCm2-oWBHCz/?igshid=1w6emjtw2dhio

[badhtaindia]

नेपाल के प्रधानमंत्री केपी शर्मा ओली ने कहा है कि भगवान राम नेपाली हैं, भारतीय नहीं. साथ ही उन्होंने अयोध्या को लेकर भी दावा किया है कि असली अयोध्या नेपाल में है. ⠀ ⠀ नेपाली पीएम के बयान पर क्या है आपकी राय, जरुर बताये? ⠀⠀ ⠀ •⠀ •⠀ •⠀ •⠀ Badhtaindia.in •⠀ •⠀ •⠀ •⠀ ⠀ #ayodhya #rammandir #LordRama #nepal #sita #shriram #ShriramMandir #kpsharmaoli #opinion #morningpost #goodmorning #instadaily #badhtaindia (at Nepal) https://www.instagram.com/p/CCm2-iaFLOi/?igshid=pz7o2lxzcsca

[ravibudhrani-ef]

Thought of the Day - Don't let anyone else drive you. Be your own master! - Dada J.P. Vaswani #dadavaswaniquotes #dadavaswaniteachings #tuesdayvibes #foodforsoul #mindcontrol #thinkpositive https://www.instagram.com/p/CCm2-oHl_zaC4krg5OPpjxKF8OGgH_DLSwmF200/?igshid=1nt3werftmt0m

[dlvjewel]

Cristaux aciculaires de Malachite sur Cobaltocalcite du Congo #CCM2 https://etsy.me/2AQ2edY #etsymineralstore #malachite #malachiteoncalcite #cobaltocalcite #cabaltoanwithmalachite #pinkcalcite #pierrerose #pinkmineral #calciterose #cobaltocalcitemalachite #dlvjewel (à France) https://www.instagram.com/p/Bq7f-nng4gFfksHTrX89JgVn2hrhOG4V1AmYks0/?utm_source=ig_tumblr_share&igshid=1rbu8p1l8czc4

[tanudaulta-blog1]

Tuesday Reminder 🌸🌸 #positiveaffirmations #affirmations #positivevibesonly #positivemindset #quotestagram #quoteoftheday #supportyourself https://www.instagram.com/p/CCm2-VypOgt/?igshid=6dwrnuz94n09

[jardelsouzaa01]

“Em vez de dar a um político as chaves da cidade, seria melhor trocar as fechaduras...” 🛣🏘 (em Centro Da Cidade Av.eduardo Ribeiro) https://www.instagram.com/p/CCM2-18pZLk/?igshid=1uxseuld5vo48