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Genetic causes of isolated and combined pituitary hormone deficiency

Best Practice & Research Clinical Endocrinology & Metabolism, 2016
Research over the last 20 years has led to the elucidation of the genetic aetiologies of Isolated Growth Hormone Deficiency (IGHD) and Combined Pituitary Hormone Deficiency (CPHD). The pituitary plays a central role in growth regulation, coordinating the multitude of central and peripheral signals to maintain the body's internal balance.
GIORDANO, Mara
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Gene analysis of PROP1 in dwarfism with combined pituitary hormone deficiency

Growth Hormone and IGF Research, 1999
The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD). Recently, PROP1 mutations have been identified in CPHD families, including our Russian cohort.
Noboru Takamura, Eiichi Kinoshita, Shunichi Yamashita   +2 more
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A newborn with combined pituitary hormone deficiency developing shock and sludge

Journal of Pediatric Endocrinology and Metabolism, 2017
AbstractA male neonate was born at 41 weeks of gestation with a birth weight of 3320 g. Artificial respiratory management was required due to respiratory disturbance 1 h after birth, and subsequently catecholamine-refractory low cardiac output-induced shock occurred.
Yasuhiro, Ueda, Hayato, Aoyagi, Toshihiro, Tajima   +2 more
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[Clinical and genetic aspects of combined pituitary hormone deficiencies].

Annales d'endocrinologie, 2008
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism ...
F, Castinetti, R, Reynaud, A, Saveanu, M-H, Quentien, F, Albarel, A, Barlier, A, Enjalbert, T, Brue   +7 more
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Combined pituitary hormone deficiency: current and future status

Journal of Endocrinological Investigation, 2014
Over the last two decades, the understanding of the mechanisms involved in pituitary ontogenesis has largely increased. Since the first description of POU1F1 human mutations responsible for a well-defined phenotype without extra-pituitary malformation, several other genetic defects of transcription factors have been reported with variable degrees of ...
F, Castinetti, R, Reynaud, M-H, Quentien, N, Jullien, E, Marquant, C, Rochette, J-P, Herman, A, Saveanu, A, Barlier, A, Enjalbert, T, Brue   +10 more
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Genetic causes of combined pituitary hormone deficiencies in humans

Annales d'Endocrinologie, 2012
Congenital hypopituitarism is a rare disease, usually induced by mutations of genes coding for transcription factors involved in pituitary development. PROP1 mutations represent the first cause of identified congenital hypopituitarism. Current techniques only identify 10-20% of congenital hypopituitarism etiologies, suggesting that new techniques are ...
Frédéric, Castinetti, Rachel, Reynaud, Alexandru, Saveanu, Anne, Barlier, Thierry, Brue   +4 more
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Combined Pituitary Hormone Deficiency

2016
The understanding of the mechanisms involved in pituitary ontogenesis, and leading to combined pituitary hormone deficiency, has made huge progress over the last 20 years. Since the launching of GENHYPOPIT, our large international cohort aimed at identifying etiologies of combined pituitary hormone deficiency (CPHD), several new transcription factors ...
Frédéric Castinetti, Thierry Brue
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Mutations in PROP1 cause familial combined pituitary hormone deficiency

Nature Genetics, 1998
Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH) and one or more of the other five anterior pituitary hormones. Mutations of the pituitary transcription factor gene POU1F1 (the human homologue of mouse Pit1) are responsible for deficiencies of GH, prolactin and thyroid stimulating hormone (TSH) in ...
W, Wu, J D, Cogan, R W, Pfäffle, J S, Dasen, H, Frisch, S M, O'Connell, S E, Flynn, M R, Brown, P E, Mullis, J S, Parks, J A, Phillips, M G, Rosenfeld   +11 more
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Combined pituitary hormone deficiency in German shepherd dogs with dwarfism

Domestic Animal Endocrinology, 2000
In German shepherd dogs pituitary dwarfism is known as an autosomal recessive inherited abnormality. To investigate whether the function of cells other than the somatotropes may also be impaired in this disease, the secretory capacity of the pituitary anterior lobe (AL) cells was studied by a combined pituitary AL stimulation test with four releasing ...
Kooistra, H.S., Voorhout, G., Mol, J.A., Rijnberk, A.   +3 more
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The Course of Neonatal Cholestasis in Congenital Combined Pituitary Hormone Deficiency

Journal of Pediatric Endocrinology and Metabolism, 2007
Neonatal cholestatic hepatitis is frequently associated with congenital combined pituitary hormone deficiency (CCPHD). Data on the course of this hepatopathy are scarce.We retrospectively analyzed the data of all CCPHD infants with cholestasis who presented at the University Children's Hospital, Tuebingen.All infants (n = 9; 2 females) presented with ...
G, Binder, D D, Martin, I, Kanther, C P, Schwarze, M B, Ranke   +4 more
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