Results 101 to 110 of about 615 (141)

Y2H interaction domains of ALMS1 and α-actinin.

, 2013
(A) Direct interaction tests with truncated ALMS1 constructs reveals that both constructs were sufficient for the interaction with α-actinin. However the most C-terminal construct showed the strongest interaction.
Jan D. Marshall (223480), Benjamin L. King (121497), Daniel J. Jagger (186043), Pietro Maffei (223489), Jürgen K. Naggert (223486), Gayle B. Collin (223482), Gabriella Milan (223492)   +6 more
core   +1 more source

Alström syndrome: current perspectives

The Application of Clinical Genetics, 2015
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M, Castro-Sánchez S, Valverde D   +2 more
doaj  

Alström syndrome presenting with life-threatening variceal bleeding in an adolescent: the youngest reported case in Türkiye

Gülhane Tıp Dergisi
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by pathogenic variants in the ALMS1 gene on chromosome 2p13, with multisystem involvement including the retina, cochlea, heart, liver, and kidneys.
Birce İzgi Akçay, Selçuk Teke, Yasin Maruf Ergen, İsmihan Merve Tekin, Necati Balamtekin   +4 more
doaj   +1 more source

Alms1^{L2131X/L2131X} Mice Recapitulate Human Alström Syndrome

, 2013
(A) Alms1L2131X/L2131X mice gain more fat mass than heterozygote or wild-type controls but equivalent lean mass.(B) Histological examination of Alms1L2131X/L2131X mice and wild-type littermate control.
Guochun Li (273973), Nancy A Hong (88958), Hua Wu (2707), Richard Glynne (273982), Raquel Vega (273975), Keats Nelms (273977), Christopher Goodnow (273979), Peter McNamara (70844), Nicholas Gekakis (260118)   +8 more
core   +1 more source

ALMS1–NKCC2 interactions [PDF]

Nature Reviews Nephrology, 2018
openaire   +2 more sources

Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene

Diabetology & Metabolic Syndrome
Background Alström syndrome is a serious monogenic rare disease with lacking systematic analyses of its endocrine and metabolic characteristics. Method Clinical data were obtained from Alström syndrome, and group comparison analyses were conducted. Whole
Huifang Peng, Kailu Li, Bingjie Xue, Yuting Wu, Yu Guo, Xin Cheng, Liujun Fu, Hongwei Jiang   +7 more
doaj   +1 more source

Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model.

Alström syndrome (AS) is an inherited rare ciliopathy characterised by multi-organ dysfunction and premature cardiovascular disease. This may manifest as an infantile-onset dilated cardiomyopathy with significant associated mortality.
Leena Patel (605144), Jonathan Barlow (5464787), Ben Davies (279533), Ashwin Roy (19564360), Davor Pavlovic (562158), Christopher O'Shea (11674981), Katja Gehmlich (19564372), Daniel Nieves (19564363), Richard P Steeds (9405508), Phalguni Rath (12961687), Caitlin Hall (12229786), Tarek Geberhiwot (19564369), Ashish Chikermane (11569585), Amar J Azad (19564366)   +13 more
core   +1 more source

Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731

, 2010
Mutations in the human gene ALMS1 cause Alström syndrome, a rare progressive condition characterized by neurosensory degeneration and metabolic defects. ALMS1 protein localizes to the centrosome and has been implicated in the assembly and/or maintenance ...
Cosma Spalluto, Adigun, Fiona F., Purvis, Tracey L., Knorz, Victoria J., Hanley, Neil A., Victoria J. Knorz, Hanley, Neil, Neil A. Hanley, Wilson, David I., Thomas Hearn, Hearn, Thomas, Lessard, Mark, Mark Lessard, Gayle B. Collin, David I. Wilson, Fiona F. Adigun, Collin, Gayle B., Hanley, Neil A.; id_orcid, Tracey L. Purvis, Spalluto, Cosma   +19 more
core   +1 more source

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome

Frontiers in Genetics
BackgroundAlström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including cone-rod dystrophy, sensorineural ...
Chun-Qiong Ran, Mei Yang, Lin Chen, Xun Liu   +3 more
doaj   +1 more source