✦ LIBER ✦

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

✍ Scribed by Shenker, Andrew; Laue, Louisa; Kosugi, Shinji; Merendino, John J.; Minegishi, Takashi; Cutler, Gordon B.

Book ID: 109786565
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 492 KB
Volume: 365
Category: Article
ISSN: 0028-0836
DOI: 10.1038/365652a0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A missense (T577I) mutation in the lutei

A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty

✍ Sandro Cocco; Antonella Meloni; Maria Giuseppina Marini; Antonio Cao; Paolo Moi 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB 👁 2 views

## Communicated trj F a d Chehab Familial male-limited precocious puberty (FMPP) is an autosomal dominant condition that affects exclusively boys. The isosexual precocious

A single somatic activating Asp578His mu

A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty

✍ Catarina B. D’Alva; Vinicius N. Brito; Heloisa M. C. Palhares; Filomena M. Carva 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB

Male pseudohermaphroditism due to a homo

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

✍ Kremer, Hannie; Kraaij, Robert; Toledo, Sergio P.A.; Post, Miriam; Fridman, Juli 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 649 KB

A novel missense homozygous inactivating

A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia

✍ Leung, Michael Yiu-Kwong ;Al-Muslim, Osama ;Wu, Shao-Ming ;Aziz, Andrew ;Inam, S 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 361 KB 👁 1 views

Gonadotropin-independent precocious pube

Gonadotropin-independent precocious puberty associated with a somatic activating mutation of the LH receptor gene: detection of a mutation present in only a small fraction of cells from testicular tissue using wild-type blocking polymerase chain reaction and laser-capture microdissection

✍ Katsumi Goji; Yoshie Teraoka; Yuki Hosokawa; Misako Okuno; Kayo Ozaki; Makiko Yo 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 377 KB

Structural mechanisms of constitutive ac

Structural mechanisms of constitutive activation in the C5a receptors with mutations in the extracellular loops: Molecular modeling study

✍ Gregory V. Nikiforovich; Thomas J. Baranski 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 641 KB

## Abstract Previously we demonstrated by random saturation mutagenesis a set of mutations in the extracellular (EC) loops that constitutively activate the C5a receptor (C5aR) (Klco et al., Nat Struct Mol Biol 2005;12:320–326; Klco et al., J Biol Chem 2006;281:12010–12019). In this study, molecular