apraga/org - Change WCSCAHYZQW65UA7NUMHTZFNIBHFQ2QRBWUKLX7PWI4BTJZH5VDMAC

Merging

Created by apraga on May 14, 2022

WCSCAHYZQW65UA7NUMHTZFNIBHFQ2QRBWUKLX7PWI4BTJZH5VDMAC

Dependencies

In channels

main

Change contents

Deletion in recherche.org at line 56 [7.49651]

B:BD[6.31] → [6.31:68]

B:BD[8.661] → [9.16:215]

BD:BD[8.661] → [9.16:215]

∅:D[6.68] → [10.515:547]

∅:D[9.215] → [10.515:547]

B:BD[10.515] → [10.515:547]

∅:D[10.547] → [11.15:85]

B:BD[8.814] → [11.15:85]

B:BD[11.85] → [10.548:638]

∅:D[10.638] → [12.467:509]

B:BD[12.467] → [12.467:509]

B:BD[12.509] → [6.69:117]

B:BD[12.509] → [9.216:264]

∅:D[6.117] → [10.688:720]

∅:D[9.264] → [10.688:720]

B:BD[10.688] → [10.688:720]

∅:D[10.720] → [13.250:374]

B:BD[12.558] → [13.250:374]

B:BD[13.374] → [10.721:816]

∅:D[10.816] → [12.769:792]

B:BD[12.769] → [12.769:792]

*** DONE Lister variants et clinique
*** DONE Plan
CLOSED: [2022-05-05 jeu. 17:56] DEADLINE: <2022-05-04 mer. 19:00>
*** TODO V1
*** TODO Figure avec tikz des variant sur la séquence d'acide aminé
*** DONE Lister variants et clinique
CLOSED: [2022-05-05 jeu. 17:56]
***** DONE Déjà fait par saffari2021
CLOSED: [2022-04-18 Mon 21:56]
***** DONE Regarder 2 autres review Cong2021 et Adang2020
CLOSED: [2022-05-05 jeu. 17:56]
Pourquoi plus de variants chez Cong2021 ?
*** DONE Vérifier l’intérêt de l’article
*** DONE Vérifier l’intérêt de l’article
CLOSED: [2022-05-05 jeu. 17:56]
***** DONE Variant déjà rapporté ?
CLOSED: [2022-05-01 Sun 19:52]
Non, NM différente (non canonique)
Cf mail de Saffari
***** DONE Phénotype : garçon moins atteint que les filles ?
CLOSED: [2022-05-05 jeu. 17:56]
Bien lire les 3 revues

Solving an order conflict in recherche.org at line 56 [7.49651]
[6.31]
[6.118]

Replacement in recherche.org at line 86 [7.49651]

∅:D[4.160] → [6.1526:1634]

B:BD[6.1526] → [6.1526:1634]

*** TODO Trouver publi avec missens chez garçon
*** TODO Trouver publi avec formes héritées chez garçon

[4.160]

[6.1634]

** Mémoire
:PROPERTIES:
:CATEGORY: memoire
:END:
*** DONE Plan
CLOSED: [2022-05-05 jeu. 17:56] DEADLINE: <2022-05-04 mer. 19:00>
*** TODO V1
*** TODO Figure avec tikz des variant sur la séquence d'acide aminé
*** DONE Lister variants et clinique
CLOSED: [2022-05-05 jeu. 17:56]
***** DONE Déjà fait par saffari2021
CLOSED: [2022-04-18 Mon 21:56]
***** DONE Regarder 2 autres review Cong2021 et Adang2020
CLOSED: [2022-05-05 jeu. 17:56]
Pourquoi plus de variants chez Cong2021 ?
*** DONE Vérifier l’intérêt de l’article
CLOSED: [2022-05-05 jeu. 17:56]
***** DONE Variant déjà rapporté ?
CLOSED: [2022-05-01 Sun 19:52]
Non, NM différente (non canonique)
Cf mail de Saffari
***** DONE Phénotype : garçon moins atteint que les filles ?
CLOSED: [2022-05-05 jeu. 17:56]
Bien lire les 3 revues
*** TODO publi avec missens chez garçon
*** TODO publi avec formes héritées chez garçon

Deletion in recherche.org at line 114 [7.49651]
B:BD[12.792] → [9.265:284]
```
*** TODO Dysmorpho
```
Solving an order conflict in recherche.org at line 114 [7.49651]
[6.1718]
[10.837]
Solving an order conflict in recherche.org at line 116 [7.49651]
[6.1827]
[9.285]
Deletion in recherche.org at line 127 [7.49651]
B:BD[14.917] → [6.1828:1840]
BD:BD[14.917] → [6.1828:1840]
```
** Mémoire
```
Resurrecting zombie bytes in recherche.org at line 127 [7.49651]
B:B[6.1840] → [6.1840:1948]
BD:B[6.1840] → [6.1840:1948]
```
*** TODO Figure avec tikz des variant sur la séquence d'acide aminé
:PROPERTIES:
:CATEGORY: memoire
:END:
```
Solving an order conflict in recherche.org at line 131 [7.49651]
[6.1948]

Insertion in recherche.org at line 131 [7.49651]

[0.921]

[5.16]

*** DONE Plan
CLOSED: [2022-05-05 jeu. 17:56] DEADLINE: <2022-05-04 mer. 19:00>

File move: plugin.js (---x------) → plugin.js (----------)
BF:BFD[2.562616] → [2.564726:564759]
BF:BF[2.564759] → [2.562634:562634]
[2.562616]
[2.562634]
File move: plugin.js (---x------) → plugin.js (----------)
BF:BFD[2.568362] → [2.582218:582251]
BF:BF[2.582251] → [2.568384:568384]
[2.568362]
[2.568384]
File move: source-sans-pro-semibolditalic.woff (---x------) → source-sans-pro-semibolditalic.woff (----------)
BF:BFD[2.2673311] → [2.2773662:2773728]
BF:BF[2.2773728] → [2.2674844:2674844]
[2.2673311]
[2.2674844]
File move: source-sans-pro-semibolditalic.ttf (---x------) → source-sans-pro-semibolditalic.ttf (----------)
BF:BFD[2.2673311] → [2.3014676:3014741]
BF:BF[2.3014741] → [2.2773730:2773730]
[2.2673311]
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File move: source-sans-pro-semibolditalic.eot (---x------) → source-sans-pro-semibolditalic.eot (----------)
BF:BFD[2.2673311] → [2.3090451:3090516]
BF:BF[2.3090516] → [2.3014743:3014743]
[2.2673311]
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File move: source-sans-pro-semibold.woff (---x------) → source-sans-pro-semibold.woff (----------)
BF:BFD[2.2673311] → [2.3206168:3206228]
BF:BF[2.3206228] → [2.3090518:3090518]
[2.2673311]
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File move: source-sans-pro-semibold.ttf (---x------) → source-sans-pro-semibold.ttf (----------)
BF:BFD[2.2673311] → [2.3490872:3490931]
BF:BF[2.3490931] → [2.3206230:3206230]
[2.2673311]
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File move: source-sans-pro-semibold.eot (---x------) → source-sans-pro-semibold.eot (----------)
BF:BFD[2.2673311] → [2.3580832:3580891]
BF:BF[2.3580891] → [2.3490933:3490933]
[2.2673311]
[2.3490933]
File move: source-sans-pro-regular.woff (---x------) → source-sans-pro-regular.woff (----------)
BF:BFD[2.2673311] → [2.3695219:3695278]
BF:BF[2.3695278] → [2.3580893:3580893]
[2.2673311]
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File move: source-sans-pro-regular.ttf (---x------) → source-sans-pro-regular.ttf (----------)
BF:BFD[2.2673311] → [2.3983290:3983348]
BF:BF[2.3983348] → [2.3695280:3695280]
[2.2673311]
[2.3695280]
File move: source-sans-pro-regular.eot (---x------) → source-sans-pro-regular.eot (----------)
BF:BFD[2.2673311] → [2.4071422:4071480]
BF:BF[2.4071480] → [2.3983350:3983350]
[2.2673311]
[2.3983350]
File move: source-sans-pro-italic.woff (---x------) → source-sans-pro-italic.woff (----------)
BF:BFD[2.2673311] → [2.4170040:4170098]
BF:BF[2.4170098] → [2.4071482:4071482]
[2.2673311]
[2.4071482]
File move: source-sans-pro-italic.ttf (---x------) → source-sans-pro-italic.ttf (----------)
BF:BFD[2.2673311] → [2.4408186:4408243]
BF:BF[2.4408243] → [2.4170100:4170100]
[2.2673311]
[2.4170100]
File move: source-sans-pro-italic.eot (---x------) → source-sans-pro-italic.eot (----------)
BF:BFD[2.2673311] → [2.4483967:4484024]
BF:BF[2.4484024] → [2.4408245:4408245]
[2.2673311]
[2.4408245]
File move: league-gothic.woff (---x------) → league-gothic.woff (----------)
BF:BFD[2.4488693] → [2.4519486:4519535]
BF:BF[2.4519535] → [2.4488720:4488720]
[2.4488693]
[2.4488720]
File move: league-gothic.ttf (---x------) → league-gothic.ttf (----------)
BF:BFD[2.4488693] → [2.4583795:4583843]
BF:BF[2.4583843] → [2.4519537:4519537]
[2.4488693]
[2.4519537]
File move: league-gothic.eot (---x------) → league-gothic.eot (----------)
BF:BFD[2.4488693] → [2.4609543:4609591]
BF:BF[2.4609591] → [2.4583845:4583845]
[2.4488693]
[2.4583845]

File deletion: chromatinopathies.org

BF:BFD[15.311] → [3.1979:2024]

BF:BFD[3.2024] → [3.593:593]

B:BD[3.593] → [3.594:1978]

#+TITLE: Chromatinopathies
#+author: David Geneviève
#+date:<2022-05-09 Mon>
(... non  suivi..)
Acétylation : HAT = ouverture ADN
HDAC  = fermeture
Méthylation :  KMT
KDM
Remodelage de la chromatine = important dans neurodev
* Anomalie acétylation des histones avec transmission mendelienne
- Rubinstein-Taybi
- Histone déacétylation : DI et brachymétatarsie
- HDAC8
- KBG
- lysine acetyltransferase =
* Méthylation des histones
Kabuki : dé méthylelysine 27
Complexe protéique = prépare régions à la transription
Kleefstrah
* Readers
sandwich protéiques qui vont permettre la transcription
ADN fermé -> marques épigénétiques qui vont ouvrir -> ??
Signature épigénétique : on voit les zones de (dé)méthylation sur lames -> les pathologies vont avoir tujours les même zones hyper/déméthylées par rapport à la norme
-> 70 maladies monogéniques ont une signature
* Kabuki
Troubles de la motricité fine
Croissance -2DS, sinon chercher cause endoc
Luxatin de la rotule par défaut de croissance
Hyperinsulinme : pense Weaver, Beckwith-wiedeman
1iere cause de DC = auto-immunité
* Rubinstein-Taybi
Déviation axiale du pouce très spécifiques
(mais penser à la dysplasie ossifiante primitive ! qui a un traitemen ten plus)
avec avec spatulé des doigts
visage : fente palpébrale . Quand sourit/pleure : aspec en demi-lune
(... non suivi ...)

Merging

Dependencies

In channels

Change contents

Deletion in recherche.org at line 56 [7.49651]

Solving an order conflict in recherche.org at line 56 [7.49651]

Replacement in recherche.org at line 86 [7.49651]

Deletion in recherche.org at line 114 [7.49651]

Solving an order conflict in recherche.org at line 114 [7.49651]

Solving an order conflict in recherche.org at line 116 [7.49651]

Deletion in recherche.org at line 127 [7.49651]

Resurrecting zombie bytes in recherche.org at line 127 [7.49651]

Solving an order conflict in recherche.org at line 131 [7.49651]

Insertion in recherche.org at line 131 [7.49651]

File move: plugin.js (---x------) → plugin.js (----------)

File move: plugin.js (---x------) → plugin.js (----------)

File move: source-sans-pro-semibolditalic.woff (---x------) → source-sans-pro-semibolditalic.woff (----------)

File move: source-sans-pro-semibolditalic.ttf (---x------) → source-sans-pro-semibolditalic.ttf (----------)

File move: source-sans-pro-semibolditalic.eot (---x------) → source-sans-pro-semibolditalic.eot (----------)

File move: source-sans-pro-semibold.woff (---x------) → source-sans-pro-semibold.woff (----------)

File move: source-sans-pro-semibold.ttf (---x------) → source-sans-pro-semibold.ttf (----------)

File move: source-sans-pro-semibold.eot (---x------) → source-sans-pro-semibold.eot (----------)

File move: source-sans-pro-regular.woff (---x------) → source-sans-pro-regular.woff (----------)

File move: source-sans-pro-regular.ttf (---x------) → source-sans-pro-regular.ttf (----------)

File move: source-sans-pro-regular.eot (---x------) → source-sans-pro-regular.eot (----------)

File move: source-sans-pro-italic.woff (---x------) → source-sans-pro-italic.woff (----------)

File move: source-sans-pro-italic.ttf (---x------) → source-sans-pro-italic.ttf (----------)

File move: source-sans-pro-italic.eot (---x------) → source-sans-pro-italic.eot (----------)

File move: league-gothic.woff (---x------) → league-gothic.woff (----------)

File move: league-gothic.ttf (---x------) → league-gothic.ttf (----------)

File move: league-gothic.eot (---x------) → league-gothic.eot (----------)

File deletion: chromatinopathies.org