Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 80

1.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF.

Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004.

2.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F.

Am J Med Genet A. 2015 Jun;167(6):1342-8. doi: 10.1002/ajmg.a.36999. Epub 2015 Apr 21.

PMID:
25900314
3.

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

König A, Happle R, Bornholdt D, Engel H, Grzeschik KH.

Am J Med Genet. 2000 Feb 14;90(4):339-46. Review.

PMID:
10710235
4.

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.

Liu XY, Dangel AW, Kelley RI, Zhao W, Denny P, Botcherby M, Cattanach B, Peters J, Hunsicker PR, Mallon AM, Strivens MA, Bate R, Miller W, Rhodes M, Brown SD, Herman GE.

Nat Genet. 1999 Jun;22(2):182-7.

PMID:
10369263
5.

Expression profile of NSDHL in human peripheral tissues.

Morimoto M, Souich Cd, Trinh J, McLarren KW, Boerkoel CF, Hendson G.

J Mol Histol. 2012 Feb;43(1):95-106. doi: 10.1007/s10735-011-9375-x. Epub 2011 Nov 24.

PMID:
22113624
6.

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.

Lucas ME, Ma Q, Cunningham D, Peters J, Cattanach B, Bard M, Elmore BK, Herman GE.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):227-33.

PMID:
14567972
7.

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Cunningham D, DeBarber AE, Bir N, Binkley L, Merkens LS, Steiner RD, Herman GE.

Hum Mol Genet. 2015 May 15;24(10):2808-25. doi: 10.1093/hmg/ddv042. Epub 2015 Feb 4.

8.

A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.

König A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH.

J Am Acad Dermatol. 2002 Apr;46(4):594-6.

PMID:
11907515
9.

CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.

Mi XB, Luo MX, Guo LL, Zhang TD, Qiu XW.

Pediatr Dermatol. 2015 Nov-Dec;32(6):e277-82. doi: 10.1111/pde.12701. Epub 2015 Oct 13. Review.

PMID:
26459993
10.
11.

Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.

Caldas H, Cunningham D, Wang X, Jiang F, Humphries L, Kelley RI, Herman GE.

Mol Genet Metab. 2005 Jan;84(1):48-60.

PMID:
15639195
12.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
13.

Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets.

Ohashi M, Mizushima N, Kabeya Y, Yoshimori T.

J Biol Chem. 2003 Sep 19;278(38):36819-29. Epub 2003 Jul 1.

14.

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

Schmidt-Sidor B, Obersztyn E, Szymańska K, Wychowski J, Mierzewska H, Wierzba-Bobrowicz T, Stepień T.

Folia Neuropathol. 2008;46(3):232-7.

15.

Large deletions in the NSDHL gene in two patients with CHILD syndrome.

Yang Z, Hartmann B, Xu Z, Ma L, Happle R, Schlipf N, Zhang LX, Xu ZG, Wang ZY, Fischer J.

Acta Derm Venereol. 2015 Nov;95(8):1007-8. doi: 10.2340/00015555-2143. No abstract available.

16.

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

Cunningham D, Talabere T, Bir N, Kennedy M, McBride KL, Herman GE.

Hum Mol Genet. 2010 Jan 15;19(2):364-73. doi: 10.1093/hmg/ddp502. Epub 2009 Oct 30.

17.

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Hartill VL, Tysoe C, Manning N, Dobbie A, Santra S, Walter J, Caswell R, Koster J, Waterham H, Hobson E.

Am J Med Genet A. 2014 Apr;164A(4):907-14. doi: 10.1002/ajmg.a.36368. Epub 2014 Jan 23.

PMID:
24459067
18.

CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.

Kim CA, Konig A, Bertola DR, Albano LM, Gattás GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH.

Dermatology. 2005;211(2):155-8.

PMID:
16088165
19.

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F.

Am J Hum Genet. 2007 May;80(5):971-81. Epub 2007 Mar 30.

20.

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

Field M, Scheffer IE, Gill D, Wilson M, Christie L, Shaw M, Gardner A, Glubb G, Hobson L, Corbett M, Friend K, Willis-Owen S, Gecz J.

Eur J Hum Genet. 2012 Jul;20(7):806-9. doi: 10.1038/ejhg.2012.9. Epub 2012 Feb 22.

Supplemental Content

Support Center