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In silico tools for splicing defect prediction have a key role to assess the impact of variants of uncertain significance. Our aim was to evaluate the performance of a set of commonly used splicing in silico tools comparing the predictions against RNA in vitro results. This was done for natural splice sites of clinically relevant genes in hereditary breast/ovarian cancer (HBOC) and Lynch syndrome.

Microsoft PowerPoint - Program 12 maj SB Program and abstract volume ”The Beauty of Drumlins and the Mystery of their Genesis”, May 12th 2017 A mini-symposium to honor the retirement of Per Möller Svante Björck, Per Sandgren Department of Geology, Lund University Field work with a ski-doo in Dalarna, central Sweden, February 2001, in search for the oldest possible lake sediments. Photo: S. Björck

https://www.geology.lu.se/sites/geology.lu.se/files/program_12_maj_drumlisymposiet_v2.pdf - 2026-05-22

There are many projects in Mozambique for poverty reduction. One of these projects is funded by Millennium Challenge Account (MCA) and is aimed to install a total of 600 rural water points in the provinces of Nampula and Cabo Delgado. Each water point consists of a drilled well, a water pump and a communal washing basin. Vertical Electrical Sounding (VES) was used for assessing the uitability of

Fourteen tree-ring chronologies developed from 788 peatland Scots pines sampled at sites in Estonia, Belarus and Sweden were compared for common growth trends and possible links to regional climate dynamics. Several synchronous growth release events were detected, especially during the 1910s, 1930s, and around 1970 and 1990, indicating that hydrological shifts and associated tree growth responses

With their highly sensitive visual systems, the arthropods have evolved a remarkable capacity to orient and navigate at night. Whereas some navigate under the open sky, and take full advantage of the celestial cues available there, others navigate in more difficult conditions, such as through the dense understory of a tropical rainforest. Four major classes of orientation are performed by arthropo

Endogenous programs that regulate annual cycles have been shown for many taxa, including protists, arthropods, fish, mammals and birds. In migration biology, these programs are best known in songbirds. The majority of songbirds rely on a genetic program inherited from their parents that will guide them during their first solo-migration. The phenotypic components of the program are crucial for thei

In this thesis, the GW approximation (GWA, Green's function G times screened interaction W) and the Hubbard I approximation (HIA) are combined in a non-self-consistent one-shot calculation to determine the electronic structure of a one-dimensional strongly-correlated model. The scheme was chosen to incorporate both screening effects through the GWA and strong on-site correlations through the a

Hybrid is what we call meetings, seminars or lectures that have both physical and digital participants. It might be the case that a majority of students attend a lecture on site and a few students attend from home – or vice versa. Hybrid teaching has become a relatively common format at University but it comes with several challenges. Therefore, it’s important to think through a meeting in advance

https://www.campusonline.lu.se/en/studying-digitally/manners-and-etiquette-hybrid-teaching - 2026-05-21

Popular Abstract in Swedish Immunsystemet är ett invecklat och komplext system som finns överallt i kroppen och som inte är begränsat till ett enda organ. Vi utsätts hela tiden för ”angrepp” från mikro-organismer (t.ex. bakterier eller virus) men också för främmande ämnen som kan vara skadliga eller giftiga. Immunsystemets huvudfunktion är att hjälpa kroppen att känna igen dessa ”angripare” och atThe overall aim of this PhD project was to gain insight into the incidence of primary immunodeficiency (PID) in southern Sweden and to optimize diagnostic and treatment measures for these patients. We estimated the occurrence rate of PID in the pediatric population of southern Sweden during a period of 4 years and described the demographic, clinical and immunological characteristics of the identif

Popular Abstract in Swedish Ofrivilligt urinläckage, urininkontinens, omfattar mer än 50 miljoner människor i världen, varav cirka 500 000 i Sverige. Av dessa beräknas 2/3 vara kvinnor. Ofrivilligt urinläckage är ett medicinskt och socialt handikapp för den drabbade, operation och hjälpmedel förorsakar samhället stora kostnader. Risken för urininkontinens ökar med stigande ålder. I svenska studierAbstract Pelvic floor disorders (PFD) represent a major public health issue worldwide. Aims of this work Study I: to investigate associations between preoperative resting urethral parameters (MUCP, FL and CA) and objective outcome of laparoscopic colposuspension and, if possible, to identify cutoff values useful in clinical practice. Study II: to investigate a group of perimenopausal women reporti

All kraft på att bekämpa barncancer – Vetenskap och Hälsa Vetenskap och hälsa Populärvetenskapligt om medicinsk forskning i Skåne Teman Podd Tidskrift Prenumerera Om webbplatsen Kontakt Sök Sök All kraft på att bekämpa barncancer 2020-11-16 ⚠️ Den här artikeln är mer än 5 år gammal. Nya forskningsrön kan ha tillkommit. Utanför de olika intagningsrummen på barnonkologen avdelning 64, hänger inplast

https://www.vetenskaphalsa.se/all-kraft-pa-att-bekampa-barncancer/ - 2026-05-21

Ny genterapi kan rädda livet på barn med svår ärftlig sjukdom – Vetenskap och Hälsa Vetenskap och hälsa Populärvetenskapligt om medicinsk forskning i Skåne Teman Podd Tidskrift Prenumerera Om webbplatsen Kontakt Sök Sök Ny genterapi kan rädda livet på barn med svår ärftlig sjukdom 2023-12-13 Den ovanliga genetiska sjukdomen MLD drabbar främst yngre barn och har tills nyligen inneburit stort lidand

https://www.vetenskaphalsa.se/ny-genterapi-kan-radda-livet-pa-barn-med-svar-arftlig-sjukdom/ - 2026-05-21

Tema cancer: Lungcancer vanligare i Skåne – Vetenskap och Hälsa Vetenskap och hälsa Populärvetenskapligt om medicinsk forskning i Skåne Teman Podd Tidskrift Prenumerera Om webbplatsen Kontakt Sök Sök Tema cancer: Lungcancer vanligare i Skåne 2010-12-13 ⚠️ Den här artikeln är mer än 5 år gammal. Nya forskningsrön kan ha tillkommit. Foto: Dreamstime Överläkare Lars Ek vet att den mörka lungcancersta

https://www.vetenskaphalsa.se/tema-cancer-lungcancer-vanligare-i-skane/ - 2026-05-22

Primär hyperparathyroidism, pHPT, är en relativt vanlig endokrinologisk sjukdom som karaktäriseras av förhöjd utsöndring av bisköldkörtelhormon, PTH, i förhållande till kalciumnivån i blodet. Sjukdomen är vanligast hos äldre och kvinnor, och orsakas oftast av en godartad tumör i en bisköldkörtel (80–85% av fallen) eller mer diffus förstoring av flera bisköldkörtlar. Bisköldkörtlarnas fysiologiska

Pleural and tracheal injuries remain significant problems, and an easy to use, effective pleural or tracheal sealant would be a significant advance. The major challenges are requirements for adherence, high strength and elasticity, dynamic durability, appropriate biodegradability, and lack of cell or systemic toxicity. We designed and evaluated two sealant materials comprised respectively of algin

The study investigates how the Best Interests of the Child principle in the UN Children's Rights Convention (Article 3) has been adapted in custody disputes in Egypt, Sweden, and Uzbekistan. Although the Convention on the Rights of the Child offers a common normative benchmark, divergent legal cultures shape its domestic meaning: Egypt is governed by religious and state legal norms intersecting wi

Melanoma is an aggressive disease that arises from deregulated signaling events in melanocytes. The KIT receptor tyrosine kinase and the Microphthalmia-associated transcription factor (MITF) are two essential components that are required for the normal physiology of melanocyte development and function. Consequently, aberrant activities of these factors are involved in the development of melanoma.

Popular Abstract in Swedish Som en blixt från klar himmel drabbas en ung, och till synes frisk person, av hjärnblödning. Denna stroke leder till demens och efterföljande nya blödningar leder slutligen till en för tidig död. Man har kunnat visa att denna sjukdom beror på att en variant av ett visst protein, cystatin C, tvinnar ihop sig till rep-liknande långa fibriller. Dessa fibriller ansamlas sedAmyloidosis is a group of diseases characterized by a change in protein conformation resulting in aggregation and tissue deposition of amyloid fibrils. One variant of cystatin C, L68Q cystatin C, is highly amyloidogenic and persons carrying the corresponding gene suffer from massive cerebral amyloidosis leading to brain hemorrhage and death. Amyloidogenic proteins like cystatin C and prion protein

The use of genetically modifi ed neural stem and progenitor cells could possibly be a future strategy for repairing a brain suffering from neurodegeneration. However, so far it has proven diffi cult to maintain sufficient levels of a transferred gene in suitable cell types, after transplantation. In the present thesis I studied the silencing of transgenes induced upon differentiation of neural pro

Summary: The Fracture Liaison Service (FLS) Consensus Meeting endorsed by the International Osteoporosis Foundation (IOF), Asian Federation of Osteoporosis Societies (AFOS), and Asia Pacific Osteoporosis Foundation (APOF) was hosted by the Taiwanese Osteoporosis Association on October 14, 2017. International and domestic experts reviewed the 13 Best Practice Framework (BPF) standards and concluded