1 | CDIDHH, MCDR1, PRDM13
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| Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
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| 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.
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| Am J Hum Genet. May 5;109(5):909-927. doi: 10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6. 2022
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2 | CDIDHH, PRDM13
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| A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia
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| 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.
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| J Clin Invest. Dec 15;131(24):e141587. doi: 10.1172/JCI141587 2021
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3 | MCDR1, PRDM13
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| 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.
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| Namburi P, Khateb S, Meyer S, Bentovim T, Ratnapriya R, Khramushin A, Swaroop A, Schueler-Furman O, Banin E, Sharon D.
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| Mol Vis Apr 16;26:299-310. eCollection 2020 2020
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4 | PRDM13
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| Prdm13 is required for Ebf3+ amacrine cell formation in the retina.
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| Goodson NB, Nahreini J, Randazzo G, Uruena A, Johnson JE, Brzezinski JA 4th.
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| Dev Biol. Feb 1;434(1):149-163. doi: 10.1016/j.ydbio.2017.12.003. Epub 2017 Dec 16. 2018
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5 | PRDM13
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| Repression by PRDM13 is critical for generating precision in neuronal identity
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| Mona B, Uruena A, Kollipara RK, Ma Z, Borromeo MD, Chang JC, Johnson JE.
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| Elife. Aug 29;6:e25787. doi: 10.7554/eLife.25787. 2017
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6 | PRDM13
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| Prdm13 regulates subtype specification of retinal amacrine interneurons and modulates visual sensitivity
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| Watanabe S, Sanuki R, Sugita Y, Imai W, Yamazaki R, Kozuka T, Ohsuga M, Furukawa T.
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| J Neurosci. May 20;35(20):8004-20. doi: 10.1523/JNEUROSCI.0089-15.2015. 2015
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7 | PRDM13
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| Deficiency of Prdm13, a dorsomedial hypothalamus-enriched gene, mimics age-associated changes in sleep quality and adiposity.
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| Satoh A, Brace CS, Rensing N, Imai S.
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| Aging Cell. Apr;14(2):209-18. doi: 10.1111/acel.12299. Epub 2014 Dec 25. 2015
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8 | PRDM11, PRDM12, PRDM13, PRDM14, PRDM5, PRDM6, PRDM7, PRDM8, PRDM9
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| A family of novel PR-domain (PRDM) genes as candidate tumor suppressors
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| Yang,X.-h. and Huang,S.
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| unpublished 2000
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9 | PRDM5, PRDM7, PRDM6, PRDM14, PRDM11, PRDM12, PRDM13, PRDM16, PRDM8, PRDM9
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| The yin-yang of PR-domain family genes in tumorigenesis.
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| Jiang GL, Huang S.
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| Histol Histopathol 15(1):109-17. Review. 2000
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