125 related articles for article (PubMed ID: 36649848)
1. Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics.
Erbs E; Brasen CL; Lund AM; Rasmussen M
Eur J Med Genet; 2023 Mar; 66(3):104698. PubMed ID: 36649848
[TBL] [Abstract][Full Text] [Related]
2. Disruptive
Lin J; Zhao L; Zhao S; Li S; Zhao Z; Chen Z; Zheng Z; Shao J; Niu Y; Li X; Zhang JT; Wu Z; Wu N
Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34681008
[TBL] [Abstract][Full Text] [Related]
3. Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Szot JO; Campagnolo C; Cao Y; Iyer KR; Cuny H; Drysdale T; Flores-Daboub JA; Bi W; Westerfield L; Liu P; Leung TN; Choy KW; Chapman G; Xiao R; Siu VM; Dunwoodie SL
Am J Hum Genet; 2020 Jan; 106(1):129-136. PubMed ID: 31883644
[TBL] [Abstract][Full Text] [Related]
4. Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
Kortbawi H; Ames E; Pritchard A; Devine P; van Ziffle J; Slavotinek A
Am J Med Genet A; 2022 Aug; 188(8):2479-2484. PubMed ID: 35491967
[TBL] [Abstract][Full Text] [Related]
5. Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Aubert-Mucca M; Janel C; Porquet-Bordes V; Patat O; Touraine R; Edouard T; Michot C; Tessier A; Cormier-Daire V; Attie-Bitach T; Baujat G
Clin Genet; 2023 Jul; 104(1):114-120. PubMed ID: 36951206
[TBL] [Abstract][Full Text] [Related]
6. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO; Cuny H; Martin EM; Sheng DZ; Iyer K; Portelli S; Nguyen V; Gereis JM; Alankarage D; Chitayat D; Chong K; Wentzensen IM; Vincent-Delormé C; Lermine A; Burkitt-Wright E; Ji W; Jeffries L; Pais LS; Tan TY; Pitt J; Wise CA; Wright H; Andrews ID; Pruniski B; Grebe TA; Corsten-Janssen N; Bouman K; Poulton C; Prakash S; Keren B; Brown NJ; Hunter MF; Heath O; Lakhani SA; McDermott JH; Ascher DB; Chapman G; Bozon K; Dunwoodie SL
J Clin Invest; 2024 Feb; 134(4):. PubMed ID: 38357931
[TBL] [Abstract][Full Text] [Related]
7. Metabolic Alterations in NADSYN1-Deficient Cells.
Meijer NWF; Gerrits J; Zwakenberg S; Zwartkruis FJT; Verhoeven-Duif NM; Jans JJM
Metabolites; 2023 Dec; 13(12):. PubMed ID: 38132878
[TBL] [Abstract][Full Text] [Related]
8. New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Szot JO; Slavotinek A; Chong K; Brandau O; Nezarati M; Cueto-González AM; Patel MS; Devine WP; Rego S; Acyinena AP; Shannon P; Myles-Reid D; Blaser S; Mieghem TV; Yavuz-Kienle H; Skladny H; Miller K; Riera MDT; Martínez SA; Tizzano EF; Dupuis L; James Stavropoulos D; McNiven V; Mendoza-Londono R; Elliott AM; ; Phillips RS; Chapman G; Dunwoodie SL
Hum Mutat; 2021 Jul; 42(7):862-876. PubMed ID: 33942433
[TBL] [Abstract][Full Text] [Related]
9. NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H; Enriquez A; Rapadas M; Martin EMMA; Wang R; Moreau J; Lim CK; Szot JO; Ip E; Hughes JN; Sugimoto K; Humphreys DT; McInerney-Leo AM; Leo PJ; Maghzal GJ; Halliday J; Smith J; Colley A; Mark PR; Collins F; Sillence DO; Winlaw DS; Ho JWK; Guillemin GJ; Brown MA; Kikuchi K; Thomas PQ; Stocker R; Giannoulatou E; Chapman G; Duncan EL; Sparrow DB; Dunwoodie SL
N Engl J Med; 2017 Aug; 377(6):544-552. PubMed ID: 28792876
[TBL] [Abstract][Full Text] [Related]
10. Molecular identification of human glutamine- and ammonia-dependent NAD synthetases. Carbon-nitrogen hydrolase domain confers glutamine dependency.
Hara N; Yamada K; Terashima M; Osago H; Shimoyama M; Tsuchiya M
J Biol Chem; 2003 Mar; 278(13):10914-21. PubMed ID: 12547821
[TBL] [Abstract][Full Text] [Related]
11. A Homozygous Deletion of Exon 5 of
Schüle I; Berger U; Matysiak U; Ruzaike G; Stiller B; Pohl M; Spiekerkoetter U; Lausch E; Grünert SC; Schmidts M
Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34200361
[TBL] [Abstract][Full Text] [Related]
12. Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.
Dunwoodie SL; Bozon K; Szot JO; Cuny H
Antioxid Redox Signal; 2023 Dec; 39(16-18):1108-1132. PubMed ID: 37300479
[No Abstract] [Full Text] [Related]
13. NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
Mark PR
Am J Med Genet A; 2022 Sep; 188(9):2834-2849. PubMed ID: 35484986
[TBL] [Abstract][Full Text] [Related]
14. Genetic variants of vitamin D metabolism-related
Alaylıoğlu M; Dursun E; Genç G; Şengül B; Bilgiç B; Gündüz A; Apaydın H; Kızıltan G; Gürvit H; Hanağası H; Öztop Çakmak Ö; Ertan S; Yılmazer S; Gezen-Ak D
Int J Neurosci; 2022 May; 132(5):439-449. PubMed ID: 32938288
[TBL] [Abstract][Full Text] [Related]
15. NAD deficiency due to environmental factors or gene-environment interactions causes congenital malformations and miscarriage in mice.
Cuny H; Rapadas M; Gereis J; Martin EMMA; Kirk RB; Shi H; Dunwoodie SL
Proc Natl Acad Sci U S A; 2020 Feb; 117(7):3738-3747. PubMed ID: 32015132
[TBL] [Abstract][Full Text] [Related]
16. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
[TBL] [Abstract][Full Text] [Related]
17. Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM; Al Suwaidi HH; Sajjad Y; Bricker L
Eur J Med Genet; 2022 May; 65(5):104501. PubMed ID: 35378319
[TBL] [Abstract][Full Text] [Related]
18. Differential role of nicotinamide adenine dinucleotide deficiency in acute and chronic kidney disease.
Faivre A; Katsyuba E; Verissimo T; Lindenmeyer M; Rajaram RD; Naesens M; Heckenmeyer C; Mottis A; Feraille E; Cippà P; Cohen C; Longchamp A; Allagnat F; Rutkowski JM; Legouis D; Auwerx J; de Seigneux S
Nephrol Dial Transplant; 2021 Jan; 36(1):60-68. PubMed ID: 33099633
[TBL] [Abstract][Full Text] [Related]
19. Aberrant NAD synthetic flux in podocytes under diabetic conditions and effects of indoleamine 2,3-dioxygenase on promoting de novo NAD synthesis.
Zhang Y; Zhao X; Li C; Yang Y; Li L; Chen Y; Shi Q; Li Z; Wu Y; Zhang L; Li R; Si M; Liang X; Chen Y
Biochem Biophys Res Commun; 2023 Feb; 643():61-68. PubMed ID: 36586160
[TBL] [Abstract][Full Text] [Related]
20. Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice.
Cuny H; Bozon K; Kirk RB; Sheng DZ; Bröer S; Dunwoodie SL
Dis Model Mech; 2023 May; 16(5):. PubMed ID: 36374036
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]