Results 101 to 110 of about 1,772,358 (255)

Two Cases of Hypothyroidism with TSH Receptor Gene D727E Polymorphism that Converted to Hyperthyroidism after Many Years

Endocrinology Research and Practice, 2018
Hashimoto’s disease and Graves’ disease are common thyroid disorders that are characterized by hypothyroidism and thyrotoxicosis, respectively. An individual may be affected by both the diseases in a sequential manner.
Murat DAĞDEVİREN, Mustafa ALTAY, Gülsüm BİTEN GÜVEN, Derun Taner ERTUĞRUL   +3 more
doaj   +1 more source

Receptors for thyroid-stimulating hormone and thyroid hormones in human ovarian tissue

Reproductive BioMedicine Online, 2009
Dysfunction in thyroid regulation can cause menstrual and ovulatory disturbances, the mechanism of which is not clear. The distribution and activity of the thyroid-stimulating hormone (TSHR), and the thyroid hormone receptors (TR) alpha1, alpha2 and beta1 in human ovarian tissue and in granulosa cells was studied using immunohistochemistry, reverse ...
Lusine, Aghajanova, Maria, Lindeberg, Inger Britt, Carlsson, Anneli, Stavreus-Evers, Pu, Zhang, Jennifer E, Scott, Outi, Hovatta, Lottie, Skjöldebrand-Sparre   +7 more
openaire   +2 more sources

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Hypothalamic ventricular ependymal thyroid hormone deiodinases are an important element of circannual timing in the Siberian hamster (Phodopus sungorus) [PDF]

, 2013
Peer ...
de Vries Emmely M., Bolborea Matei, Emmely M de Vries, de Vries, Emmely M, Ebling Francis J. P., Bolborea, Matei, Morgan, Peter J, Mercer, Julian G, Annika Herwig, Wilson Dana, Mercer, Julian G., Morgan, Peter J., Matei Bolborea, Francis J P Ebling, Herwig, Annika, Ebling, Francis J P, Barrett, Perry, Perry Barrett, Dana Wilson, Julian G Mercer, Mercer Julian G., Ebling, Francis J. P., Wilson, Dana, Herwig Annika, Barrett Perry, Vries, Emmely M. de, Morgan Peter J., Peter J Morgan   +27 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report

The Turkish Journal of Pediatrics, 2013
Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene.
Emregül Işık, Paolo Beck Peccoz, Irene Campi, Alev Özön, Ayfer Alikaşifoğlu, Nazlı Gönç, Nurgün Kandemir   +6 more
doaj  

RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS

, 2018
Refetoff Syndrome is a rare disorder characterized by resistance to thyroid hormone (RTH). The coexistence of RTH and thyroid dysgenesis is a rare event. Up to now, only four cases of ectopic gland and RTH have been reported.
Maria Scavone
core   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

The androgen receptor and signal-transduction pathways in hormone-refractory prostate cancer. Part 1: modifications to the androgen receptor [PDF]

, 2005
Prostate cancer is the second most common male malignancy in the western world an increasing incidence in an ageing population. Treatment of advanced prostate cancer relies on androgen deprivation.
Edwards, J., Bartlett, J.M.S.
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source