Johanna Kansakoski
Overview
Explore the profile of Johanna Kansakoski including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
23
Citations
313
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Pulli K, Saarimaki-Vire J, Ahonen P, Liu X, Ibrahim H, Chandra V, et al.
JCI Insight
. 2024 May;
9(10).
PMID: 38775154
MAPK activating death domain (MADD) is a multifunctional protein regulating small GTPases RAB3 and RAB27, MAPK signaling, and cell survival. Polymorphisms in the MADD locus are associated with glycemic traits,...
2.
Tuupanen S, Gall K, Sistonen J, Saarinen I, Kampjarvi K, Wells K, et al.
Transl Vis Sci Technol
. 2022 Jan;
11(1):6.
PMID: 34985506
Purpose: Comprehensive genetic testing for inherited retinal dystrophy (IRD) is challenged by difficult-to-sequence genomic regions, which are often mutational hotspots, such as RPGR ORF15. The purpose of this study was...
3.
Varimo T, Iivonen A, Kansakoski J, Wehkalampi K, Hero M, Vaaralahti K, et al.
Pediatr Res
. 2020 Nov;
90(2):431-435.
PMID: 33214675
Background: Paternally inherited loss-of-function mutations in MKRN3 underlie central precocious puberty (CPP). We describe clinical and genetic features of CPP patients with paternally inherited MKRN3 mutations in two independent families....
4.
Hietamaki J, Gregory L, Ayoub S, Iivonen A, Vaaralahti K, Liu X, et al.
J Clin Endocrinol Metab
. 2020 Feb;
105(6).
PMID: 32060556
Context: Congenital pituitary hormone deficiencies with syndromic phenotypes and/or familial occurrence suggest genetic hypopituitarism; however, in many such patients the underlying molecular basis of the disease remains unknown. Objective: To...
5.
Messina A, Pulli K, Santini S, Acierno J, Kansakoski J, Cassatella D, et al.
Am J Hum Genet
. 2019 Dec;
106(1):58-70.
PMID: 31883645
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by infertility and the absence of puberty. Defects in GnRH neuron migration or altered GnRH secretion and/or action lead to...
6.
Iivonen A, Kansakoski J, Vaaralahti K, Raivio T
Endocr Connect
. 2019 Apr;
8(5):506-509.
PMID: 30999277
In approximately half of congenital hypogonadotropic hypogonadism (cHH) patients, the genetic cause remains unidentified. Since the lack of certain miRNAs in animal models has led to cHH, we sequenced human...
7.
MKRN3 Interacts With Several Proteins Implicated in Puberty Timing but Does Not Influence Expression
Yellapragada V, Liu X, Lund C, Kansakoski J, Pulli K, Vuoristo S, et al.
Front Endocrinol (Lausanne)
. 2019 Feb;
10:48.
PMID: 30800097
Paternally-inherited loss-of-function mutations in makorin ring finger protein 3 gene () underlie central precocious puberty. To investigate the puberty-related mechanism(s) of in humans, we generated two distinct bi-allelic knock-out human...
8.
Huttunen H, Hero M, Laaperi M, Kansakoski J, Swan H, Hirsch J, et al.
Front Endocrinol (Lausanne)
. 2018 May;
9:194.
PMID: 29740400
Objective: Two missense mutations in , an imprinted gene that encodes the alpha subunit of the voltage-gated potassium channel Kv7.1, cause autosomal dominant growth hormone deficiency and maternally inherited gingival...
9.
Iivonen A, Kansakoski J, Karppinen A, Kivipelto L, Schalin-Jantti C, Karhu A, et al.
Endocr Connect
. 2018 Apr;
7(5):645-652.
PMID: 29703730
Objective: Recently, mutations in , a potassium channel gene usually linked to long QT syndrome, were reported to cause maternally inherited gingival fibromatosis and growth hormone deficiency (GHD). Expression of...
10.
Kim Y, Osborn D, Lee J, Araki M, Araki K, Mohun T, et al.
EMBO Rep
. 2017 Dec;
19(2):269-289.
PMID: 29263200
WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility. However, WDR11's role in development is poorly...