Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
By C. Dodé, J. Levilliers, J. Dupont, A. Paepe, Na Du, N. Soussi-Yanicostas, R. Coimbra, S. Delmaghani, Sylvie Compain-Nouaille, F. Baverel and 20 more. Nature Genetics, 2003
800 citations recorded by the source corpus.
Subfields: Molecular Biology, Sensory Systems
View Paper: https://www.semanticscholar.org/paper/73d8ef803ff7792f24bbc61de7841aaad3fe35ef
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Molecular Biology
Citations in the corpus
- Kisspeptins and reproduction: physiological roles and regulatory mechanisms. (2012, background): “This observation ruled out the possibility of a defective migration of GnRH neuron precursors from the olfactory placode, as had been proven the case for other monogenic forms of HH, such as those associated with mutations in KAL1 or FGF receptor 1 (FGFR1 or KAL2) genes (6, 105, 400).”
- Structural basis for fibroblast growth factor receptor activation. (2005, background): “Imbalances in FGF signaling cause a wide spectrum of human pathological conditions including skeletal syndromes [55,56] (current issue Wilkie review), olfactory syndromes [57], phosphate wasting disorders [58,59] (current issue White review) and cancer [60–62] (current issue Dickson review).”