Zobrazeno 1 - 10
of 216
pro vyhledávání: '"Jerzy, Bal"'
Autor:
Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Katarzyna Woźniak, Justyna Sawicka, Adrianna Mika, Anna Kutkowska-Kaźmierczak, Katarzyna Niepokój, Agnieszka Sobczyńska-Tomaszewska, Bartłomiej Wawrzycki, Aldona Pietrzak, Robert Śmigiel, Bartosz Wojtaś, Bartłomiej Gielniewski, Alicja Szabelska-Beresewicz, Joanna Zyprych-Walczak, Agnieszka Magdalena Rygiel, Alicja Domaszewicz, Natalia Braun-Walicka, Alicja Grabarczyk, Sylwia Rzońca-Niewczas, Ruszkowska Lidia, Mateusz Dawidziuk, Dominik Domański, Tomasz Gambin, Monika Jackiewicz, Katarzyna Duk, Barbara Dorożko, Orest Szczygielski, Natalia Krześniak, Bartłomiej H Noszczyk, Ewa Obersztyn, Jolanta Wierzba, Artur Barczyk, Jennifer Castaneda, Anna Eckersdorf-Mastalerz, Anna Jakubiuk-Tomaszuk, Paweł Własienko, Ilona Jaszczuk, Aleksandra Jezela-Stanek, Jakub Klapecki, Michel van Geel, Cezary Kowalewski, Jerzy Bal, Antoni Gostyński
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms
Externí odkaz:
https://doaj.org/article/fa4b27d36ae94c2aad70ecdc21678bb1
Autor:
Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis i
Externí odkaz:
https://doaj.org/article/c18b3b663ef74783a5974b86ec2c54f6
Autor:
Katarzyna Kowalczyk, Marta Smyk, Magdalena Bartnik-Głaska, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Joanna Bernaciak, Marta Chojnacka, Magdalena Paczkowska, Magdalena Niemiec, Daria Dutkiewicz, Agata Kozar, Róża Magdziak, Wojciech Krawczyk, Grzegorz Pietras, Elżbieta Michalak, Teresa Klepacka, Ewa Obersztyn, Jerzy Bal, Beata Anna Nowakowska
Publikováno v:
Journal of Assisted Reproduction and Genetics. 39:357-367
Spontaneous abortion occurs in 8–20% of recognized pregnancies and usually takes place in the first trimester (7–11 weeks). There are many causes of pregnancy loss, but the most important (about 75%) is the presence of chromosomal aberrations. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9d47d1433dae8abffc263d604da45b
https://doi.org/10.1007/s10815-022-02400-8
https://doi.org/10.1007/s10815-022-02400-8
Publikováno v:
Postępy Biochemii. 67:248-258
Dysplazje ektodermalne stanowią dużą grupę genetycznie uwarunkowanych chorób, które charakteryzują się spektrum objawów dotyczących struktur pochodzenia ektodermalnego (najczęściej zębów, włosów, paznokci i gruczołów potowych). Zide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::55d2af25cdaa29a5f4510179348febd4
https://doi.org/10.18388/pb.2021_392
https://doi.org/10.18388/pb.2021_392
Autor:
Jarosław Poznański, Justyna Sawicka, Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Anna Kutkowska-Kaźmierczak, Agnieszka Magdalena Rygiel, Cezary Kowalewski, A. Tysarowski, Jerzy Bal, Katarzyna Woźniak, Katarzyna Niepokój, N. Braun-Walicka
Publikováno v:
Journal of Applied Genetics
Hailey-Hailey disease (HHD) is a rare, late-onset autosomal dominant genodermatosis characterized by blisters, vesicular lesions, crusted erosions, and erythematous scaly plaques predominantly in intertriginous regions. HHD is caused by ATP2C1 mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::269ffbd60d035f45e6dcff4c4006ec79
http://europepmc.org/articles/PMC7148260
http://europepmc.org/articles/PMC7148260
Autor:
Mateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Ewelina Bukowska-Olech, Marta Jurek, Ewa Kalka, Dorothy Lys Guilbride, Mariusz Ireneusz Furmanek, Monika Bekiesinska-Figatowska, Jerzy Bal, Pawel Gawlinski
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 23, Iss 692, p 692 (2022)
International Journal of Molecular Sciences, Vol 23, Iss 692, p 692 (2022)
Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser–Winter Syndrome (B-WS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d873de26f98cc197d58f5324f95f534b
http://europepmc.org/articles/PMC8776155
http://europepmc.org/articles/PMC8776155
Autor:
Agnieszka Charzewska, Iwona Terczyńska, Agata Lipiec, Tomasz Mazurczak, Paulina Górka-Skoczylas, Róża Szlendak, Karolina Kanabus, Renata Tataj, Mateusz Dawidziuk, Bartosz Wojtaś, Bartłomiej Gielniewski, Jerzy Bal, Elżbieta Stawicka, Dorota Hoffman-Zacharska
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 2; Pages: 1117
Studies conducted on large populations show a lack of connection between vaccination and serious neurological symptoms. However, there are isolated cases that indicate such a relationship. These reports on adverse effects following immunization (AEFI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45ebdf78cd39094a39efc7cd1d289a1f
https://doi.org/10.3390/ijms24021117
https://doi.org/10.3390/ijms24021117
Autor:
Jerzy Bal, Joanna Kosińska, Jolanta Wierzba, Piotr Stawiński, Rafał Płoski, Milena Poryszewska, Ewa Kaczorowska, Sylwia Olimpia Rzońca-Niewczas
Publikováno v:
Genes; Volume 12; Issue 12; Pages: 1911
Genes, Vol 12, Iss 1911, p 1911 (2021)
Genes
Genes, Vol 12, Iss 1911, p 1911 (2021)
Genes
Investigating novel genetic variants involved in intellectual disability (ID) development is essential. X-linked intellectual disability (XLID) accounts for over 10% of all cases of ID in males. XLID genes are involved in many cellular pathways and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3906d53607e5e223cf13aee83d209174
Autor:
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczałuba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Rafał Płoski, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
Publikováno v:
Genes, Vol 12, Iss 1257, p 1257 (2021)
KBG syndrome is a neurodevelopmental autosomal dominant disorder characterized by short stature, macrodontia, developmental delay, behavioral problems, speech delay and delayed closing of fontanels. Most patients with KBG syndrome are found to have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::b1614593f5219aa4700ebe069032ed0f
https://www.mdpi.com/2073-4425/12/8/1257
https://www.mdpi.com/2073-4425/12/8/1257
Publikováno v:
Postepy biochemii. 67(3)
Ectodermal dysplasias are a wide group of genetic disorders characterised by clinical symptoms in ectodermal derivatives (most frequently teeth, hair, nails and sweat glands). There is a number of genes, which, if mutated, can cause the specified phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::747f9de3410ff03119828cb583d90cf7
https://pubmed.ncbi.nlm.nih.gov/34894390
https://pubmed.ncbi.nlm.nih.gov/34894390