scholarly journals Leydig Cell Hypoplasia: Absent Luteinizing Hormone Receptor Cell Surface Expression Caused by a Novel Homozygous Mutation in the Extracellular Domain

2004 ◽  
Vol 89 (10) ◽  
pp. 5161-5167 ◽  
Author(s):  
A. Richter-Unruh ◽  
M. Verhoef-Post ◽  
S. Malak ◽  
J. Homoki ◽  
B. P. Hauffa ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Cell Surface ◽  
Leydig Cell ◽  
Hormone Receptor ◽  
Receptor Cell ◽  
Surface Expression ◽  
Luteinizing Hormone Receptor ◽  
Cell Surface Expression ◽  
Homozygous Mutation ◽  
Leydig Cell Hypoplasia

scholarly journals A Homozygous Mutation in the Luteinizing Hormone Receptor Causes Partial Leydig Cell Hypoplasia: Correlation between Receptor Activity and Phenotype

1998 ◽  
Vol 12 (6) ◽  
pp. 775-784 ◽  
Author(s):  
John W. M. Martens ◽  
Miriam Verhoef-Post ◽  
Neusa Abelin ◽  
Marilza Ezabella ◽  
Sergio P. A. Toledo ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Leydig Cell ◽  
Hormone Receptor ◽  
Luteinizing Hormone Receptor ◽  
Receptor Activity ◽  
Homozygous Mutation ◽  
Leydig Cell Hypoplasia

scholarly journals Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.

1996 ◽  
Vol 10 (8) ◽  
pp. 987-997
Author(s):  
L L Laue ◽  
S M Wu ◽  
M Kudo ◽  
C J Bourdony ◽  
G B Cutler ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Leydig Cell ◽  
Hormone Receptor ◽  
Receptor Gene ◽  
Luteinizing Hormone Receptor ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations ◽  
Leydig Cell Hypoplasia ◽  
Hormone Receptor Gene

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia

1995 ◽  
Vol 4 (8) ◽  
pp. 1429-1433 ◽  
Author(s):  
Louisa Laue ◽  
Shao-Ming Wu ◽  
Masataka Kudo ◽  
Aaron J.W. Hsueh ◽  
Gordon B. Cutler ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Leydig Cell ◽  
Hormone Receptor ◽  
Nonsense Mutation ◽  
Receptor Gene ◽  
Luteinizing Hormone Receptor ◽  
Leydig Cell Hypoplasia ◽  
Hormone Receptor Gene

scholarly journals Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

2017 ◽  
Vol 8 ◽  
Author(s):  
Thais Louvain de Souza ◽  
Regina C. de Souza Campos Fernandes ◽  
Juliana Azevedo da Silva ◽  
Vladimir Gomes Alves Júnior ◽  
Adelia Gomes Coelho ◽  
...  
Keyword(s):  
Cell Surface ◽  
Signal Peptide ◽  
Receptor Cell ◽  
Surface Expression ◽  
Cell Surface Expression ◽  
Homozygous Mutation ◽  
Disease Spectrum ◽  
Microbial Disease

scholarly journals A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia

2015 ◽  
Vol 24 (21) ◽  
pp. 6003-6012 ◽  
Author(s):  
Valeria Vezzoli ◽  
Paolo Duminuco ◽  
Alessandra Vottero ◽  
Gunnar Kleinau ◽  
Ralf Schülein ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Signal Peptide ◽  
Leydig Cell ◽  
Hormone Receptor ◽  
Luteinizing Hormone Receptor ◽  
New Variant ◽  
Leydig Cell Hypoplasia

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

2004 ◽  
Vol 130A (2) ◽  
pp. 146-153 ◽  
Author(s):  
Michael Yiu-Kwong Leung ◽  
Osama Al-Muslim ◽  
Shao-Ming Wu ◽  
Andrew Aziz ◽  
Sohail Inam ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Leydig Cell ◽  
Hormone Receptor ◽  
Transmembrane Helix ◽  
Luteinizing Hormone Receptor ◽  
Inactivating Mutation ◽  
Leydig Cell Hypoplasia

A Novel Double Mutation in the Luteinizing Hormone Receptor in a Kindred with Familial Leydig Cell Hypoplasia and Male Pseudohermaphroditism

2005 ◽  
Vol 31 (4) ◽  
pp. 307-323 ◽  
Author(s):  
Robin Pals-Rylaarsdam ◽  
Guoquan Liu ◽  
Wendy Brickman ◽  
Lise Duranteau ◽  
Jason Monroe ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Leydig Cell ◽  
Hormone Receptor ◽  
Luteinizing Hormone Receptor ◽  
Male Pseudohermaphroditism ◽  
Double Mutation ◽  
Leydig Cell Hypoplasia
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