Results 101 to 110 of about 2,574,928 (152)

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Novel androgen receptor gene variant containing a premature termination codon in a patient with androgen insensitivity syndrome / [PDF]

, 2019
BACKGROUND: Androgen receptor mutations, which cause androgen insensitivity syndrome, impair the actions of 5ɑ-dihydrotestosterone and testosterone, resulting in abnormal sexual development. In most cases, genetic aberrations of the androgen receptor (AR)
Utkus, Algirdas,, Dasevičius, Darius,, Pranckėnienė, Laura,, Bumbulienė, Žana,, Kučinskas, Vaidutis,, Preikšaitienė, Eglė,   +5 more
core   +1 more source

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

BMC Endocrine Disorders, 2017
Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler, on behalf of the dsd-LIFE group   +10 more
doaj   +1 more source

A Familial X‐Linked Disorder of Sexual Development in Thoroughbred Horses Associated With a Novel Androgen Receptor Splice‐Site Variant

Animal Genetics, Volume 57, Issue 3, June 2026.
Anna Letko, Vidhya Jagannathan, Cord Drögemüller, Gesine Lühken   +3 more
wiley   +1 more source

A Cell Model for Conditional Profiling of Androgen-Receptor-Interacting Proteins

International Journal of Endocrinology, 2012
Partial androgen insensitivity syndrome (PAIS) is associated with impaired male genital development and can be transmitted through mutations in the androgen receptor (AR).
K. A. Mooslehner, J. D. Davies, I. A. Hughes   +2 more
doaj   +1 more source

Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T [PDF]

Einstein (São Paulo), 2003
Three novel mutations in the androgen receptor gene were detectedby PCR-SSCP and characterized by DNA sequencing of genomicDNA samples from 3 unrelated patients with male pseudohermaphroditism caused by partial androgen insensitivity.
Patrícia Renovato Tobo, Angela Silva Barbosa, Lene Garcia Barbosa, Angela Maria Spínola-Castro, Carlos Alberto Moreira-Filho   +4 more
doaj  

Androgen dependent stimulation of aromatase activity in genital skin fibroblasts from normals and patients with androgen insensitivity

, 1991
objective To measure the effect of androgens or aromatase activity as an index of androgen responsiveness in patients with androgen insensitivity design Genital skin fibroblasts were established in culture using primary skin explants obtained from ...
Stlllman, S. C., S. C. Stlllman, Hughes, I. A., B. A. J. Evans, I. A. Hughes, Evans, Bronwen Alice James   +5 more
core   +1 more source

Pubertal And Gonadal Outcomes In 46,XY Individuals With Partial Androgen Insensitivity Syndrome Raised As Girls [PDF]

, 2021
Guilherme Guaragna‐Filho, Gil Guerra‐Júnior, Rieko Tadokoro‐Cuccaro, Ieuan A. Hughes, Beatriz Amstalden Barros, Olaf Hiort, Antonio Balsamo, Tülay Güran, Paul‐Martin Holterhus, Sabine Elisabeth Hannema, Şükran Poyrazoğlu, Feyza Darendelıler, Jillian Bryce, S. Faisal Ahmed, Charmian A. Quigley   +14 more
openalex   +1 more source

Association of the Hind III polymorphism with the androgen receptor gene in partial androgen insensitivity syndrome.

, 1991
Partial androgen insensitivity syndrome (PAIS) is an X-linked disorder resulting from defects in the intracellular androgen receptor (AR). The cloning of the AR cDNA has provided the molecular tools to identify gene abnormalities.
Van Regemorter, Nicole, Heinrichs, Claudine, Ruiz, Rubén, Terraza, A, Belon, C, Lobaccaro, J M, Sultan, C   +6 more
core  

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype

, 2017
There are only 2 patients with 47,XXY karyotype and androgen receptor (<i>AR</i>) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS).
Mirian Y. Nishi, Berenice B. de Mendonça, Sorahia Domenice, Nathália L.R.A. Gomes, Alina C.R. Feitosa, José Antonia F. Junior, Elaine M.F. Costa, Rafael L. Batista, Andresa S. Rodrigues   +8 more
core   +1 more source