Citations for
1CDIDHH, MCDR1, PRDM13
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, Pouliet A, Nitschké P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V.
Am J Hum Genet. May 5;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6. 2022
2CDIDHH, PRDM13
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ; GOSgene, Torpiano JG, Formosa N, Cachia MJ, Field D, Lettieri A, Ocaka LA, Paganoni AJ, Rajabali SH, Riegman KL, De Martini LB, Chaya T, Robinson IC, Furukawa T, Cariboni A, Basson MA, Dattani MT.
J Clin Invest. Dec 15;131(24):e141587. doi: 10.1172/JCI141587 2021
3MCDR1, PRDM13
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.
Namburi P, Khateb S, Meyer S, Bentovim T, Ratnapriya R, Khramushin A, Swaroop A, Schueler-Furman O, Banin E, Sharon D.
Mol Vis Apr 16;26:299-310. eCollection 2020 2020
4PRDM13
Prdm13 is required for Ebf3+ amacrine cell formation in the retina.
Goodson NB, Nahreini J, Randazzo G, Uruena A, Johnson JE, Brzezinski JA 4th.
Dev Biol. Feb 1;434(1):149-163. doi: 10.1016/j.ydbio.2017.12.003. Epub 2017 Dec 16. 2018
5PRDM13
Repression by PRDM13 is critical for generating precision in neuronal identity
Mona B, Uruena A, Kollipara RK, Ma Z, Borromeo MD, Chang JC, Johnson JE.
Elife. Aug 29;6:e25787. doi: 10.7554/eLife.25787. 2017
6PRDM13
Prdm13 regulates subtype specification of retinal amacrine interneurons and modulates visual sensitivity
Watanabe S, Sanuki R, Sugita Y, Imai W, Yamazaki R, Kozuka T, Ohsuga M, Furukawa T.
J Neurosci. May 20;35(20):8004-20. doi: 10.1523/JNEUROSCI.0089-15.2015. 2015
7PRDM13
Deficiency of Prdm13, a dorsomedial hypothalamus-enriched gene, mimics age-associated changes in sleep quality and adiposity.
Satoh A, Brace CS, Rensing N, Imai S.
Aging Cell. Apr;14(2):209-18. doi: 10.1111/acel.12299. Epub 2014 Dec 25. 2015
8PRDM11, PRDM12, PRDM13, PRDM14, PRDM5, PRDM6, PRDM7, PRDM8, PRDM9
A family of novel PR-domain (PRDM) genes as candidate tumor suppressors
Yang,X.-h. and Huang,S.
unpublished 2000
9PRDM5, PRDM7, PRDM6, PRDM14, PRDM11, PRDM12, PRDM13, PRDM16, PRDM8, PRDM9
The yin-yang of PR-domain family genes in tumorigenesis.
Jiang GL, Huang S.
Histol Histopathol 15(1):109-17. Review. 2000