Cargando…

Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea

PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study...

Descripción completa

Detalles Bibliográficos
Autores principales:	Choi, Jin-Ho, Jung, Chang-Woo, Kang, Eungu, Kim, Yoon-Myung, Heo, Sun Hee, Lee, Beom Hee, Kim, Gu-Hwan, Yoo, Han-Wook
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Yonsei University College of Medicine 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368137/ https://www.ncbi.nlm.nih.gov/pubmed/28332357 http://dx.doi.org/10.3349/ymj.2017.58.3.527

Ejemplares similares

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome
por: Lee, Sang Soo, et al.
Publicado: (2017)

Multiple pituitary hormone deficiency: beware of combined hormones deficiency
por: Rochmah, Nur, et al.
Publicado: (2013)

Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies
por: Elizabeth, Melitza, et al.
Publicado: (2017)

Distinct pituitary hormone levels of 184 Chinese children and adolescents with multiple pituitary hormone deficiency: a single-centre study
por: Wang, Fengxue, et al.
Publicado: (2019)

SIX3 Variant Causes Pituitary Stalk Interruption Syndrome and Combined Pituitary Hormone Deficiency
por: Bando, Hironori, et al.
Publicado: (2021)

Independent Skeletal Actions of Pituitary Hormones
por: Kim, Se-Min, et al.
Publicado: (2022)

Pituitary-hormone secretion by thyrotropinomas
por: Roelfsema, Ferdinand, et al.
Publicado: (2008)

Pituitary Hormones and Orofacial Pain
por: Dussor, Gregory, et al.
Publicado: (2018)

Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome
por: Jeong, Insook, et al.
Publicado: (2016)

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency
por: Kinjo, Kenichi, et al.
Publicado: (2020)

Growth Responses During 3 Years of Growth Hormone Treatment in Children and Adolescents With Growth Hormone Deficiency: Comparison Between Idiopathic, Organic and Isolated Growth Hormone Deficiency, and Multiple Pituitary Hormone Deficiency
por: Lim, Han Hyuk, et al.
Publicado: (2022)

Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies
por: Correa, Fernanda A., et al.
Publicado: (2017)

Laparoscopic appendicectomy in a child with multiple pituitary hormone deficiency
por: Bhaskar, S Bala, et al.
Publicado: (2013)

Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency
por: Budny, Bartłomiej, et al.
Publicado: (2020)

THU159 Identifying Causative Genes For Pituitary Hormone Deficiencies
por: Mayer, Julian Martinez, et al.
Publicado: (2023)

Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt
por: Ziemnicka, Katarzyna, et al.
Publicado: (2016)

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
por: Correa, Fernanda A, et al.
Publicado: (2015)

Growth Hormone Is Beneficial for Induction of Spermatogenesis in Adult Patients With Congenital Combined Pituitary Hormone Deficiency
por: Zhu, Yiyi, et al.
Publicado: (2022)

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary
por: Penta, Laura, et al.
Publicado: (2019)

THE INTRACELLULAR LOCALIZATION OF PITUITARY THYROTROPIC HORMONE
por: Greenspan, Francis S., et al.
Publicado: (1965)

Pituitary Cachexia Treated with Corticotrophic Hormone
por: Hemphill, R. E.
Publicado: (1946)

The Interaction of Insulin and Pituitary Hormone Syndromes
por: Schernthaner-Reiter, Marie Helene, et al.
Publicado: (2021)

Transcriptional and Genomic Regulation of Pituitary Function by Thyroid Hormone Receptor Beta
por: Cho, Young-Wook, et al.
Publicado: (2021)

Three Japanese patients with congenital pituitary hormone deficiency and ophthalmological anomalies
por: Takanashi, Kuniko, et al.
Publicado: (2011)

Investigation of Responsiveness to Thyrotropin-Releasing Hormone in Growth Hormone-Producing Pituitary Adenomas
por: Chin, Sang Ouk, et al.
Publicado: (2013)

Gigantism caused by growth hormone secreting pituitary adenoma
por: Rhee, Noorisaem, et al.
Publicado: (2014)

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening
por: Kang, Eungu, et al.
Publicado: (2018)

STUDIES ON PITUITARY LACTOGENIC HORMONE : III. SOLUBILITIES OF SHEEP AND BEEF HORMONES
por: Li, Choh Hao, et al.
Publicado: (1941)

A novel KAL1 mutation is associated with combined pituitary hormone deficiency
por: Takagi, Masaki, et al.
Publicado: (2014)

Impact of Pituitary Autoimmunity and Genetic Disorders on Growth Hormone Deficiency in Children and Adults
por: Bellastella, Giuseppe, et al.
Publicado: (2020)

HIST1H1E syndrome with deficiency in multiple pituitary hormones
por: Tanabe, Yuko, et al.
Publicado: (2023)

PHYSICOCHEMICAL CHARACTERIZATION OF PITUITARY FOLLICLE-STIMULATING HORMONE
por: Li, Choh Hao, et al.
Publicado: (1952)

Gonadotropin-inhibitory hormone action in the brain and pituitary
por: Ubuka, Takayoshi, et al.
Publicado: (2012)

Results of Recent Studies on Anterior Pituitary Hormones
por: Collip, J. B.
Publicado: (1938)

Is it time to consider the expression of specific-pituitary hormone genes when typifying pituitary tumours?
por: García-Martínez, Araceli, et al.
Publicado: (2018)

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation
por: Asakura, Yumi, et al.
Publicado: (2015)

RF14 | PMON328 The Effect of Pituitary Cysts on Pituitary Volume in Patients with Growth Hormone Deficiency and Idiopathic Short Stature
por: Patale, Tara, et al.
Publicado: (2022)

A novel “total pituitary hormone index” as an indicator of postoperative pituitary function in patients undergoing resection of pituitary adenomas
por: Wang, Shousen, et al.
Publicado: (2017)

Clinical characteristics and treatment outcomes in Camurati–Engelmann disease: A case series
por: Kim, Yoon-Myung, et al.
Publicado: (2018)

PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
por: Kardelen, Aslı Derya, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_04tdsiltd044sd2u8kllqabgap