1 - 25 of 37 results for author:"Achermann J.C." in Literature citations
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| Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Arboleda V.A., Lee H., Parnaik R., Fleming A., Banerjee A., Ferraz-de-Souza B., Delot E.C., Rodriguez-Fernandez I.A., Braslavsky D., Bergada I. et al. |
| Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. Tantawy S., Lin L., Akkurt I., Borck G., Klingmuller D., Hauffa B.P., Krude H., Biebermann H., Achermann J.C., Kohler B. Eur. J. Endocrinol. 167:125-130(2012) · Mapped (6) |
| Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency. El-Khairi R., Parnaik R., Duncan A.J., Lin L., Gerrelli D., Dattani M.T., Conway G.S., Achermann J.C. Mol. Cell. Endocrinol. 351:264-268(2012) · Mapped (1) |
| Human RSPO1/R-spondin1 is expressed during early ovary development and augments beta-catenin signaling. Tomaselli S., Megiorni F., Lin L., Mazzilli M.C., Gerrelli D., Majore S., Grammatico P., Achermann J.C. PLoS ONE 6:e16366-e16366(2011) · Mapped (6) |
| Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal. Ferraz-de-Souza B., Hudson-Davies R.E., Lin L., Parnaik R., Hubank M., Dattani M.T., Achermann J.C. J. Clin. Endocrinol. Metab. 96:E663-8(2011) · Mapped (10) |
| Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation. Frapsauce C., Ravel C., Legendre M., Sibony M., Mandelbaum J., Donadille B., Achermann J.C., Siffroi J.P., Christin-Maitre S. Hum. Reprod. 26:724-728(2011) · Mapped (3) |
| Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function. El-Khairi R., Martinez-Aguayo A., Ferraz-de-Souza B., Lin L., Achermann J.C. Endocr Dev 20:38-46(2011) · Mapped (9) |
| ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland. Ferraz-de-Souza B., Lin L., Shah S., Jina N., Hubank M., Dattani M.T., Achermann J.C. FASEB J. 25:1166-1175(2011) · Mapped (11) |
| Steroidogenic factor-1 (SF-1, NR5A1) and human disease. Ferraz-de-Souza B., Lin L., Achermann J.C. Mol. Cell. Endocrinol. 336:198-205(2011) · Mapped (6) |
| Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Bashamboo A., Ferraz-de-Souza B., Lourenco D., Lin L., Sebire N.J., Montjean D., Bignon-Topalovic J., Mandelbaum J., Siffroi J.P., Christin-Maitre S. et al. Am. J. Hum. Genet. 87:505-512(2010) · UniProtKB (1) · Mapped (5) |
| The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. Kohler B., Lin L., Mazen I., Cetindag C., Biebermann H., Akkurt I., Rossi R., Hiort O., Gruters A., Achermann J.C. Eur. J. Endocrinol. 161:237-242(2009) · Mapped (6) |
| Mutations in NR5A1 associated with ovarian insufficiency. Lourenco D., Brauner R., Lin L., De Perdigo A., Weryha G., Muresan M., Boudjenah R., Guerra-Junior G., Maciel-Guerra A.T., Achermann J.C. et al. N. Engl. J. Med. 360:1200-1210(2009) · UniProtKB (1) · Mapped (5) |
| CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease. Ferraz-de-Souza B., Martin F., Mallet D., Hudson-Davies R.E., Cogram P., Lin L., Gerrelli D., Beuschlein F., Morel Y., Huebner A. et al. J. Clin. Endocrinol. Metab. 94:678-683(2009) · Mapped (11) |
| SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. Kelberman D., de Castro S.C., Huang S., Crolla J.A., Palmer R., Gregory J.W., Taylor D., Cavallo L., Faienza M.F., Fischetto R. et al. J. Clin. Endocrinol. Metab. 93:1865-1873(2008) · Mapped (1) |
| Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. Kim C.J., Lin L., Huang N., Quigley C.A., Avruskin T.W., Achermann J.C., Miller W.L. J. Clin. Endocrinol. Metab. 93:696-702(2008) · UniProtKB (1) · Mapped (5) |
| Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. Philibert P., Zenaty D., Lin L., Soskin S., Audran F., Leger J., Achermann J.C., Sultan C. Hum. Reprod. 22:3255-3261(2007) · Mapped (6) |
| Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Koehler B., Lin L., Ferraz-de-Souza B., Wieacker P., Heidemann P., Schroeder V., Biebermann H., Schnabel D., Grueters A., Achermann J.C. |
| A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita. Ahmad I., Paterson W.F., Lin L., Adlard P., Duncan P., Tolmie J., Achermann J.C., Donaldson M.D. Horm. Res. 68:32-37(2007) · Mapped (3) |
| Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Lin L., Hindmarsh P.C., Metherell L.A., Alzyoud M., Al-Ali M., Brain C.E., Clark A.J., Dattani M.T., Achermann J.C. Clin. Endocrinol. (Oxf) 66:205-210(2007) · Mapped (1) |
| Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. Lin L., Philibert P., Ferraz-de-Souza B., Kelberman D., Homfray T., Albanese A., Molini V., Sebire N.J., Einaudi S., Conway G.S. et al. J. Clin. Endocrinol. Metab. 92:991-999(2007) · UniProtKB (1) |
| A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. Lin L., Conway G.S., Hill N.R., Dattani M.T., Hindmarsh P.C., Achermann J.C. J. Clin. Endocrinol. Metab. 91:5117-5121(2006) · Mapped (1) |
| Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. Kelberman D., Rizzoti K., Avilion A., Bitner-Glindzicz M., Cianfarani S., Collins J., Chong W.K., Kirk J.M., Achermann J.C., Ross R. et al. J. Clin. Invest. 116:2442-2455(2006) · Mapped (9) |
| Steroidogenic factor-1 (SF-1) and its relevance to pediatric endocrinology. de-Souza B.F., Lin L., Achermann J.C. Pediatr Endocrinol Rev 3:359-364(2006) · Mapped (6) |
| Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. Lin L., Gu W.X., Ozisik G., To W.S., Owen C.J., Jameson J.L., Achermann J.C. J. Clin. Endocrinol. Metab. 91:3048-3054(2006) · Mapped (9) |
| IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. Hutz J.E., Krause A.S., Achermann J.C., Vilain E., Tauber M., Lecointre C., McCabe E.R., Hammer G.D., Keegan C.E. Mol. Genet. Metab. 88:66-70(2006) · Mapped (2) |