Search Results - "Pfaeffle, Roland W."

High Prevalence of PROP1 Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency by Navardauskaite, Ruta, Dusatkova, Petra, Obermannova, Barbora, Pfaeffle, Roland W, Blum, Werner F, Adukauskiene, Dalia, Smetanina, Natalija, Cinek, Ondrej, Verkauskiene, Rasa, Lebl, Jan

“…Context: PROP1 gene mutations cause multiple pituitary hormone deficiency (MPHD). Objective: We sought to expand experience with PROP1 mutation carriers by…”
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The Growth Response to Growth Hormone (GH) Treatment in Children with Isolated GH Deficiency Is Independent of the Presence of the Exon 3-Minus Isoform of the GH Receptor by Blum, Werner F., Machinis, Kalotina, Shavrikova, Elena P., Keller, Alexandra, Stobbe, Heike, Pfaeffle, Roland W., Amselem, Serge

“…Context: A variant of the human GH receptor (GHR) lacks a 22-amino-acid sequence derived from exon 3 (d3-GHR). It was reported that pediatric patients, born…”
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Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies by Pfaeffle, Roland W., Hunter, Chad S., Savage, Jesse J., Duran-Prado, Mario, Mullen, Rachel D., Neeb, Zachary P., Eiholzer, Urs, Hesse, Volker, Haddad, Nadine G., Stobbe, Heike M., Blum, Werner F., Weigel, Johannes F. W., Rhodes, Simon J.

“…Context: The LHX4 LIM-homeodomain transcription factor has essential roles in pituitary gland and nervous system development. Heterozygous mutations in LHX4…”
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Four Novel Mutations of the LHX3 Gene Cause Combined Pituitary Hormone Deficiencies with or without Limited Neck Rotation by Pfaeffle, Roland W., Savage, Jesse J., Hunter, Chad S., Palme, Christina, Ahlmann, Martina, Kumar, Prasanna, Bellone, Jaele, Schoenau, Eckhard, Korsch, Eckhard, Brämswig, Jürgen H., Stobbe, Heike M., Blum, Werner F., Rhodes, Simon J.

“…Context: The Lhx3 LIM-homeodomain transcription factor gene is required for development of the pituitary and motoneurons in mice. Human LHX3 gene mutations…”
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Mutations in the LHX3 gene cause dysregulation of pituitary and neural target genes that reflect patient phenotypes by Savage, Jesse J., Hunter, Chad S., Clark-Sturm, Surilda L., Jacob, Tanya M., Pfaeffle, Roland W., Rhodes, Simon J.

“…The LHX3 LIM-homeodomain transcription factor is required for correct development of the mammalian pituitary gland and spinal motoneurons. Mutations in the…”
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Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects by Lebl, Jan, Vosáhlo, Jan, Pfaeffle, Roland W, Stobbe, Heike, Černá, Jana, Novotná, Dana, Zapletalová, Jiřina, Kalvachová, Božena, Hána, Václav, Weiss, Vladimír, Blum, Werner F

“…Objective: Multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern early pituitary development. We aimed to…”
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LHX3 and LHX4 transcription factors in pituitary development and disease by Colvin, Stephanie C, Mullen, Rachel D, Pfaeffle, Roland W, Rhodes, Simon J

“…The LHX3 and LHX4 LIM-homeodomain proteins are regulatory transcription factors that play overlapping but distinct functions during the establishment of the…”
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Height Gain with Combined Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Two Pubertal Siblings with a Growth Hormone-Releasing Hormone Receptor Mutation by Walenkamp, Marie J. E., Pereira, Alberto M., Oostdijk, Wilma, Stokvis-Brantsma, Wilhelmina H., Pfaeffle, Roland W., Blankenstein, Oliver, Wit, Jan M.

“…Context: Patients with GHRH receptor (GHRH-R) mutations present with familial isolated GH deficiency, which untreated leads to a severely compromised adult…”
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Effects of obesity on human sexual development by Wagner, Isabel V., Sabin, Matthew A., Pfäffle, Roland W., Hiemisch, Andreas, Sergeyev, Elena, Körner, Antje, Kiess, Wieland

“…The worldwide pandemic of childhood obesity has renewed interest in the relationship between body composition in childhood and the timing and tempo of puberty…”
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Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency by Simm, Franziska, Griesbeck, Anne, Choukair, Daniela, Weiß, Birgit, Paramasivam, Nagarajan, Klammt, Jürgen, Schlesner, Matthias, Wiemann, Stefan, Martinez, Cristina, Hoffmann, Georg F., Pfäffle, Roland W., Bettendorf, Markus, Rappold, Gudrun A.

“…Combined pituitary hormone deficiency (CPHD) is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone…”
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A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies by Schunter, Jo Ana, Löffler, Dennis, Wiesner, Tobias, Kovacs, Peter, Badenhoop, Klaus, Aust, Gabriela, Tönjes, Anke, Müller, Peter, Baber, Ronny, Simon, Jan C, Führer, Dagmar, Pfäffle, Roland W, Thiery, Joachim, Stumvoll, Michael, Kiess, Wieland, Kratzsch, Jürgen, Körner, Antje

“…Context: Vitiligo frequently coincides with autoimmune endocrinopathies, particularly Hashimoto's thyroiditis (HT). Genetic susceptibility may underlie this…”
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Associations between pituitary imaging abnormalities and clinical and biochemical phenotypes in children with congenital growth hormone deficiency: data from an international observational study by Deal, Cheri, Hasselmann, Caroline, Pfäffle, Roland W, Zimmermann, Alan G, Quigley, Charmian A, Child, Christopher J, Shavrikova, Elena P, Cutler, Jr, Gordon B, Blum, Werner F

“…Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). This study examined relationships between MRI findings…”
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Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes by Blum, Werner F., Klammt, Jürgen, Amselem, Serge, Pfäffle, Heike M., Legendre, Marie, Sobrier, Marie-Laure, Luton, Marie-Pierre, Child, Christopher J., Jones, Christine, Zimmermann, Alan G., Quigley, Charmian A., Cutler, Gordon B., Deal, Cheri L., Lebl, Jan, Rosenfeld, Ron G., Parks, John S., Pfäffle, Roland W.

“…Pituitary development and GH secretion are orchestrated by multiple genes including GH1, GHRHR, GLI2, HESX1, LHX3, LHX4, PROP1, POU1F1, and SOX3. We aimed to…”
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PROP1 Mutations Cause Progressive Deterioration of Anterior Pituitary Function including Adrenal Insufficiency: A Longitudinal Analysis by Böttner, Antje, Keller, Eberhard, Kratzsch, Jürgen, Stobbe, Heike, Weigel, Johannes F. W., Keller, Alexandra, Hirsch, Wolfgang, Kiess, Wieland, Blum, Werner F., Pfäffle, Roland W.

“…Mutations in the PROP1 gene are the most frequent genetic defects in patients with combined pituitary hormone insufficiency. However, controversy exists about…”
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Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development by Mullen, Rachel D., Colvin, Stephanie C., Hunter, Chad S., Savage, Jesse J., Walvoord, Emily C., Bhangoo, Amrit P.S., Ten, Svetlana, Weigel, Johannes, Pfäffle, Roland W., Rhodes, Simon J.

“…The LHX3 and LHX4 LIM-homeodomain transcription factors play essential roles in pituitary gland and nervous system development. Mutations in the genes encoding…”
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