Virpi Launonen

Unregulated smooth-muscle myosin in human intestinal neoplasia (2008)

Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, ...

A recent study described a recessive ATPase activating germ-line mutation in smooth-muscle myosin (smmhc/myh11) underlying the zebrafish meltdown (mlt) phenotype. The mlt zebrafish develops...

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency (2008)

Bayley, Jean-Pierre, Launonen, Virpi, Tomlinson, Ian PM

Abstract Background Fumarate hydratase (HGNC approved gene symbol – FH ), also known as fumarase, is an enzyme of the tricarboxylic acid (TCA) cycle, involved in fundamental cellular energy...

Unregulated smooth-muscle myosin in human intestinal neoplasia. (2008)

Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, ...

A recent study described a recessive ATPase activating germ-line mutation in smooth-muscle myosin (smmhc/myh11) underlying the zebrafish meltdown (mlt) phenotype. The mlt zebrafish develops...

Germline CDKN1B/p27(Kip1) mutation in multiple endocrine neoplasia (2007)

Georgitsi, Marianthi, Raitila, Anniina, Karhu, Auli, Van Der Luijt, Rob B., Aalfs, Cora M., Sane, Timo, ...

Context: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a...

Inherited susceptibility to uterine leiomyomas and renal cell cancer

Launonen, Virpi, Vierimaa, Outi, Kiuru, Maija, Isola, Jorma, Roth, Stina, Pukkala, Eero, ...

Herein we report the clinical, histopathological, and molecular features of a cancer syndrome with predisposition to uterine leiomyomas and papillary renal cell carcinoma. The studied kindred...

Induction of cyclooxygenase-2 in a mouse model of Peutz–Jeghers polyposis

Rossi, Derrick J., Ylikorkala, Antti, Korsisaari, Nina, Salovaara, Reijo, Luukko, Keijo, Launonen, Virpi, ...

Inactivating germ-line mutations of LKB1 lead to Peutz–Jeghers syndrome (PJS). We have generated mice heterozygous for a targeted inactivating allele of Lkb1 and found that they develop severe...

Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

Zhou, Xiao-Ping, Woodford-Richens, Kelly, Lehtonen, Rainer, Kurose, Keisuke, Aldred, Micheala, Hampel, Heather, ...

Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were...

Inherited susceptibility to uterine leiomyomas and renal cell cancer

Launonen, Virpi, Vierimaa, Outi, Kiuru, Maija, Isola, Jorma, Roth, Stina, Pukkala, Eero, ...

Herein we report the clinical, histopathological, and molecular features of a cancer syndrome with predisposition to uterine leiomyomas and papillary renal cell carcinoma. The studied kindred...

Induction of cyclooxygenase-2 in a mouse model of Peutz–Jeghers polyposis

Rossi, Derrick J., Ylikorkala, Antti, Korsisaari, Nina, Salovaara, Reijo, Luukko, Keijo, Launonen, Virpi, ...

Inactivating germ-line mutations of LKB1 lead to Peutz–Jeghers syndrome (PJS). We have generated mice heterozygous for a targeted inactivating allele of Lkb1 and found that they develop severe...

Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

Zhou, Xiao-Ping, Woodford-Richens, Kelly, Lehtonen, Rainer, Kurose, Keisuke, Aldred, Micheala, Hampel, Heather, ...

Juvenile polyposis syndrome (JPS) is an inherited hamartomatous-polyposis syndrome with a risk for colon cancer. JPS is a clinical diagnosis by exclusion, and, before susceptibility genes were...

Biallelic Inactivation of Fumarate Hydratase (FH) Occurs in Nonsyndromic Uterine Leiomyomas but Is Rare in Other Tumors

Lehtonen, Rainer, Kiuru, Maija, Vanharanta, Sakari, Sjöberg, Jari, Aaltonen, Leena-Maija, Aittomäki, Kristiina, ...

Germline mutations in the fumarate hydratase (FH) gene at 1q43 predispose to dominantly inherited cutaneous and uterine leiomyomas, uterine leiomyosarcoma, and papillary renal cell cancer (HLRCC...

Germline and Somatic Mutation Analysis of MLH3 in MSI-Positive Colorectal Cancer

Loukola, Anu, Vilkki, Susa, Singh, Jaskiran, Launonen, Virpi, Aaltonen, Lauri A.

Microsatellite instability (MSI) is characteristic of hereditary nonpolyposis colorectal cancer, and occurs in a subset (10 to 15%) of unselected colorectal cancer cases. In hereditary nonpolyposis...

Familial Cutaneous Leiomyomatosis Is a Two-Hit Condition Associated with Renal Cell Cancer of Characteristic Histopathology

Kiuru, Maija, Launonen, Virpi, Hietala, Marja, Aittomäki, Kristiina, Vierimaa, Outi, Salovaara, Reijo, ...

Little has been known about the molecular background of familial multiple cutaneous leiomyomatosis (MCL). We report here a clinical, histopathological, and molecular study of a multiple cutaneous...

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations

Georgitsi, Marianthi, Raitila, Anniina, Karhu, Auli, Tuppurainen, Karoliina, Mäkinen, Markus J., Vierimaa, Outi, ...

Pituitary adenomas are common neoplasms of the anterior pituitary gland. Germ-line mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene cause pituitary adenoma predisposition...

Unregulated smooth-muscle myosin in human intestinal neoplasia

Alhopuro, Pia, Phichith, Denis, Tuupanen, Sari, Sammalkorpi, Heli, Nybondas, Miranda, Saharinen, Juha, ...

A recent study described a recessive ATPase activating germ-line mutation in smooth-muscle myosin (smmhc/myh11) underlying the zebrafish meltdown (mlt) phenotype. The mlt zebrafish develops...